Article
HMBS mutations in Chinese patients with acute intermittent porphyria.
Annals of human genetics - 1 Sept 2008
Yang C-C, Kuo H-C, You H-L, Wang J, Huang C-C, Liu C-Y, Lan M-Y, Stephenson D A, Lee M-J
Abstract excerpt
Acute intermittent porphyria (AIP), an autosomal dominant disorder, is caused by partial deficiency of hydroxymethylbilane synthase (HMBS) affecting heme biosynthesis. Patients with AIP are characterized by recurrent abdominal pain, port-wine urine, and motor paresis. The disease can be provoked by changes in hormone levels, drugs and fasting. Molecular analysis for twenty-four unrelated Chinese AIP patients from...
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