Article
A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria.
Clinical biochemistry - 1 Aug 1999
Maeda N, Horie Y, Sasaki Y, Ueta E, Adachi K, Nanba E, Kawasaki H, Kudo Y, Kondo M
Abstract excerpt
OBJECTIVES: Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). As far as the gene abnormalities of the HMBS, many different mutations have been reported. In this work, we investigated the presence of mutations in a Japanese family with AIP. DESIGN AND METHODS: A 44-year-old Japanese male and nine members of his...
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