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Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria

✍ Scribed by N. Maeda; Y. Horie; K. Adachi; E. Nanba; H. Kawasaki; M. Daimon; Y. Kudo; M. Kondo

Book ID
106252624
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
172 KB
Volume
45
Category
Article
ISSN
1435-232X

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Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism that results from the half-normal activity of the third enzyme in the heme biosynthetic pathway, hydroxymethylbilane synthase (HMB-synthase). AIP is an ecogenetic condition, with 1ife.threatening acute attacks pre

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Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene.