Article
Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: report of four novel mutations.
Human mutation - 1 May 2000
Martinez di Montemuros F, Di Pierro E, Fargion S, Biolcati G, Griso D, Macrì A, Fiorelli G, Cappellini M D
Abstract excerpt
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. We have now identified seven mutations in eight unrelated Italian patients with AIP: two splicing defects...
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