Condition: Epidermolysis bullosa with pyloric atresia
rs762236241 in
GALK1;ITGB4 gene and
Epidermolysis bullosa with pyloric atresia
PMID 12485428 2002 Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.
PMID 10484780 1999 Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing.
rs121912461 in
ITGB4 gene and
Epidermolysis bullosa with pyloric atresia
PMID 9546354 1998 Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
PMID 9892956 1998 Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
PMID 9792864 1998 Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.
PMID 10873890 2000 Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
PMID 11328943 2001 Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
PMID 11251584 2001 Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
PMID 9422533 1998 Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
PMID 9546354 1998 Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
PMID 9792864 1998 One of the patients with lethal EB-PA was a compound heterozygote for premature termination-codon mutations (C738X/4791delCA), whereas the other patient with a lethal variant was homozygous for a missense mutation involving a cysteine residue (C61Y).
rs121912467 in
ITGB4;GALK1 gene and
Epidermolysis bullosa with pyloric atresia
PMID 9892956 1998 Pyloric atresia-junctional epidermolysis bullosa syndrome: mutations in the integrin beta4 gene (ITGB4) in two unrelated patients with mild disease.
PMID 9422533 1998 Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4).
PMID 9546354 1998 Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia.
PMID 10873890 2000 Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
PMID 11328943 2001 Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations.
PMID 11251584 2001 Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.
PMID 9792864 1998 Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense.