present in Gene: UROS
present in Chromosome: 10
Position on Chromosome: 125815061
Alleles of this Variant: A/C;G
rs121908012 in
UROS gene and
Porphyria, Erythropoietic
PMID 21343304 2011 The intracellularly recovered C73R-UROIIIS protein shows enzymatic activity, paving the way for a new line of therapeutic intervention in CEP patients.
PMID 21365124 2011 Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes.
PMID 15304101 2004 Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling.
PMID 12060141 2002 Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
PMID 9803266 1998 The results are consistent with the hypothesis that C73R is a hotspot mutation for CEP, and does not represent wide dispersion of a single ancestral mutant C73R allele.
PMID 11121156 2000 Congenital erythropoietic porphyria: a novel homozygous mutation in a Japanese patient.
PMID 9834209 1998 Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
PMID 22350154 2012 Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria.
PMID 21653323 2011 We genotyped ALAS2 in 4 unrelated CEP patients exhibiting the same C73R/P248Q UROS genotype.
PMID 7860775 1995 Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
PMID 2331520 1990 Point mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria (Günther's disease).
PMID 11689424 2001 Crystal structure of human uroporphyrinogen III synthase.
PMID 1733834 1992 Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
PMID 8655129 1996 A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.
PMID 9188670 1997 Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family.
PMID 1737856 1992 The C73R allele was present in eight of 21 unrelated CEP patients (21% of CEP alleles).