Condition: Crigler Najjar syndrome, type 1


rs72551356 in UGT1A10;UGT1A5;UGT1A6;UGT1A7;UGT1A4;UGT1A9;UGT1A3;UGT1A1;UGT1A8 gene and Crigler Najjar syndrome, type 1 PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

rs35003977 in UGT1A10;UGT1A9;UGT1A1;UGT1A6;UGT1A8;UGT1A4;UGT1A5;UGT1A7;UGT1A3 gene and Crigler Najjar syndrome, type 1 PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 11182932 2000 Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.

PMID 26697581 2015 Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.

rs72551351 in UGT1A3;UGT1A9;UGT1A6;UGT1A1;UGT1A4;UGT1A5;UGT1A7;UGT1A10;UGT1A8 gene and Crigler Najjar syndrome, type 1 PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

rs72551339 in UGT1A3;UGT1A9;UGT1A7;UGT1A5;UGT1A1;UGT1A4;UGT1A6;UGT1A8;UGT1A10 gene and Crigler Najjar syndrome, type 1 PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

rs1283652721 in UGT1A4;UGT1A10;UGT1A8;UGT1A3;UGT1A9;UGT1A7;UGT1A5;UGT1A1;UGT1A6 gene and Crigler Najjar syndrome, type 1 PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

rs72551353 in UGT1A4;UGT1A3;UGT1A10;UGT1A6;UGT1A7;UGT1A5;UGT1A1;UGT1A8;UGT1A9 gene and Crigler Najjar syndrome, type 1 PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

rs367897068 in UGT1A5;UGT1A10;UGT1A6;UGT1A1;UGT1A9;UGT1A4;UGT1A3;UGT1A8;UGT1A7 gene and Crigler Najjar syndrome, type 1 PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

rs72551342 in UGT1A5;UGT1A1;UGT1A4;UGT1A7;UGT1A10;UGT1A3;UGT1A9;UGT1A8;UGT1A6 gene and Crigler Najjar syndrome, type 1 PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

rs72551352 in UGT1A6;UGT1A10;UGT1A1;UGT1A8;UGT1A3;UGT1A4;UGT1A7;UGT1A9;UGT1A5 gene and Crigler Najjar syndrome, type 1 PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

rs72551354 in UGT1A6;UGT1A1;UGT1A4;UGT1A5;UGT1A8;UGT1A3;UGT1A10;UGT1A7;UGT1A9 gene and Crigler Najjar syndrome, type 1 PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

rs758873309 in UGT1A6;UGT1A3;UGT1A5;UGT1A4;UGT1A1;UGT1A7;UGT1A9;UGT1A8;UGT1A10 gene and Crigler Najjar syndrome, type 1 PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

rs72551355 in UGT1A6;UGT1A5;UGT1A9;UGT1A10;UGT1A4;UGT1A8;UGT1A3;UGT1A1;UGT1A7 gene and Crigler Najjar syndrome, type 1 PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

rs72551345 in UGT1A7;UGT1A1;UGT1A4;UGT1A8;UGT1A6;UGT1A3;UGT1A9;UGT1A10;UGT1A5 gene and Crigler Najjar syndrome, type 1 PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

rs750453538 in UGT1A7;UGT1A3;UGT1A8;UGT1A9;UGT1A10;UGT1A6;UGT1A4;UGT1A1;UGT1A5 gene and Crigler Najjar syndrome, type 1 PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 7989045 1994 Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

rs62625011 in UGT1A8;UGT1A4;UGT1A1;UGT1A6;UGT1A10;UGT1A7;UGT1A5;UGT1A3;UGT1A9 gene and Crigler Najjar syndrome, type 1 PMID 23992562 2013 UGT1A1 gene mutations in Pakistani children suffering from inherited nonhemolytic unconjugated hyperbilirubinemias.

PMID 11013440 2000 Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

PMID 8226884 1993 A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.

PMID 17229650 2007 Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia.

PMID 1634050 1992 Mechanisms of inherited deficiencies of multiple UDP-glucuronosyltransferase isoforms in two patients with Crigler-Najjar syndrome, type I.

PMID 7989595 1994 Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

PMID 19830808 2010 Crigler-Najjar syndrome in The Netherlands: identification of four novel UGT1A1 alleles, genotype-phenotype correlation, and functional analysis of 10 missense mutants.

PMID 15712364 2005 Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

PMID 7989045 1994 Here, we report eleven mutations (including nine novel mutations) of the B-UGT1 gene in a large series of 14 unrelated CN-I children of various geographic origins: France (seven patients: A401P, Q357X, W335X, A368T, 1223insG, A291V, K426E, K437X); Portugal (two patients: G308E); Tunisia (two patients; Q357R); Turkey (one patient: S381R); italy (two siblings: S381R).

PMID 7906695 1994 Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.