Article
C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria.
Annals of human genetics - 1 May 1998
Frank J, Wang X, Lam H M, Aita V M, Jugert F K, Goerz G, Merk H F, Poh-Fitzpatrick M B, Christiano A M
Abstract excerpt
Congenital erythropoietic porphyria (CEP) results from profoundly deficient activity of the fourth enzyme of the haeme biosynthetic pathway, uroporphyrinogen III synthase (UROIIIS). CEP is a rare, recessively inherited disorder, and mutations in the UROIIIS gene detected in CEP patients are heterogeneous. The notable exception to this rule is a single missense mutation, designated C73R, which represents over 40%...
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