Article
Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria.
Research communications in molecular pathology and pharmacology - 1 Jan 1998
Tomie Y, Horie Y, Tajima F, Kitaoka S, Nanba E, Yuasa I, Kawasaki H
Abstract excerpt
Acute intermittent porphyria (AIP) is an inherited disorder characterized by a deficiency of hydroxymethylbilane synthase (EC 4.3.1.8.; HMBS), the third enzyme in the heme biosynthetic pathway. To date, 113 different HMBS gene mutations have been reported in the world. However, there were a few reports of the gene mutations in the Japanese AIP patients. We studied the gene mutation in two unrelated AIP families...
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