present in Gene: UROD;HECTD3
present in Chromosome: 1
Position on Chromosome: 45013316
Alleles of this Variant: G/T
rs376921379 in
UROD;HECTD3 gene and
Porphyria Cutanea Tarda
PMID 10477430 1999 Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
PMID 8896428 1996 Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
PMID 11069625 2000 Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.
PMID 11295834 2001 Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
PMID 2920211 1989 A point mutation in the coding region of uroporphyrinogen decarboxylase associated with familial porphyria cutanea tarda.
PMID 10338097 1999 Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. Mutation in brief no. 237. Online.
PMID 2243121 1990 Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda.
PMID 7706766 1995 A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
PMID 11719352 2001 Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
PMID 9792863 1998 Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.