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Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria

✍ Scribed by Xiaoye Schneider-Yin; Dana Ulbrichova; Rivka Mamet; Pavel Martasek; Christopher C. Marohnic; Avner Goren; Elisabeth I. Minder; Nili Schoenfeld

Book ID: 116988353
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 318 KB
Volume: 94
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2008.03.001

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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.