Article
[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
Genetika - 1 Apr 2010
Surin V L, Luchinina Iu A, Selivanova D S, Pustovoĭt Ia S, Karpova I S, Pivnik A V, Luk'ianenko A V, Kravchenko S K
Abstract excerpt
Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease, caused by partial deficiency of porphobilinogen deaminase (PBGD), one of the key enzymes ofheme biosynthesis. This study describes molecular genetics of AIP in Russia. Mutation analysis of PBGD gene in 70 unrelated patients revealed 47 various genetic defects, 28 of which had not been described previously. Mutations 53delT and Argl 73...
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