Variant: rs199475602 

    present in Gene: PAH
    present in Chromosome: 12
    Position on Chromosome: 102855313
    Alleles of this Variant: C/G;T

rs199475602 in PAH gene and Classical phenylketonuria PMID 11935335 2002 Identification and characterization of a novel liver-specific enhancer of the human phenylalanine hydroxylase gene.

PMID 24667081 2014 Phenylketonuria Scientific Review Conference: state of the science and future research needs.

PMID 12501224 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

PMID 12649065 2003 DHPLC mutation analysis of phenylketonuria.

PMID 23430918 2012 Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?

PMID 23764561 2013 Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

PMID 23792259 2013 Mutation analysis in hyperphenylalaninemia patients from South Italy.

PMID 1355066 1992 Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

PMID 23842451 2013 Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.

PMID 18538294 2008 Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.

PMID 23500595 2013 Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

PMID 10679941 2000 Phenylketonuria and hyperphenylalaninemia in eastern Germany: a characteristic molecular profile and 15 novel mutations.

PMID 16879198 2006 Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.

PMID 17096675 2007 Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

PMID 11385716 2001 Molecular analysis of phenylketonuria (PKU) in newborns from Texas.

PMID 11326337 2001 Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.

PMID 8659548 1996 Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study.

PMID 23430547 2013 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

PMID 26666653 2015 Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness.

PMID 27121329 2016 Molecular epidemiology, genotype-phenotype correlation and BH4 responsiveness in Spanish patients with phenylketonuria.

PMID 1672290 1991 Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

PMID 23357515 2013 Hyperphenylalaninemia in the Czech Republic: genotype-phenotype correlations and in silico analysis of novel missense mutations.

PMID 24789341 2014 Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.

PMID 8098245 1993 Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.

PMID 21445337 2011 Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays.

PMID 22513348 2012 Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

PMID 24385074 2014 Phenylalanine hydroxylase deficiency: diagnosis and management guideline.

PMID 22388642 2012 Efficacy and safety of BH4 before the age of 4 years in patients with mild phenylketonuria.

PMID 1363838 1992 A new PKU mutation associated with haplotype 12.

PMID 1358789 1992 Molecular basis for nonphenylketonuria hyperphenylalaninemia.

PMID 10394930 1999 Phenylketonuria mutations in Germany.

PMID 21147011 2011 Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.

PMID 17924342 2007 Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

PMID 22526846 2013 Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.

PMID 8068076 1993 Identification of a new missense mutation in Japanese phenylketonuric patients.

PMID 1672294 1991 Phenylketonuria missense mutations in the Mediterranean.

PMID 19609714 2009 Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

PMID 21915151 2012 Clinical utility gene card for: Phenylketonuria.

PMID 1671810 1991 Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

PMID 8088845 1994 Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

PMID 1363837 1992 A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.

PMID 9792407 1998 Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.

PMID 9792411 1998 Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH).

PMID 9048935 1997 Two novel PAH gene mutations detected in Italian phenylketonuric patients.

PMID 8807331 1996 DGGE analysis as supplement to SSCP analysis of the phenylalanine hydroxylase gene: detection of eight (one de novo, seven inherited) of nine remaining Norwegian PKU mutations.

PMID 9452062 1998 Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population.

PMID 9101291 1997 Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

PMID 8889590 1996 Phenylalanine hydroxylase deficiency in a population in Germany: mutational profile and nine novel mutations.

PMID 9521426 1998 Eight new mutations of the phenylalanine hydroxylase gene in Italian patients with hyperphenylalaninemia.

PMID 9452061 1998 Identification of three novel mutations in Korean phenylketonuria patients: R53H, N207D, and Y325X.

PMID 9950317 1999 Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)

PMID 9852673 1998 Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.

rs199475602 in PAH gene and Hyperphenylalaninaemia PMID 23500595 2013 Molecular epidemiology and BH4-responsiveness in patients with phenylalanine hydroxylase deficiency from Galicia region of Spain.

PMID 23764561 2013 Phenylalanine hydroxylase deficiency in the Slovak population: genotype-phenotype correlations and genotype-based predictions of BH4-responsiveness.

PMID 12501224 2002 Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

PMID 23430547 2013 Molecular Genetics and Genotype-Based Estimation of BH4-Responsiveness in Serbian PKU Patients: Spotlight on Phenotypic Implications of p.L48S.

PMID 17096675 2007 Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.