Molecular genetic study of acute intermittent porphyria in Russia: Mutation analysis and functional polymorphism search in porphobilinogen deaminase gene

Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease, caused by partial deficiency of porphobilinogen deaminase (PBGD), one of the key enzymes of heme biosynthesis. This study describes molecular genetics of AIP in Russia. Mutation analysis of PBGD gene in 70 unrelated pati...

Full description

Bibliographic Details

Published in:	Russian journal of genetics Vol. 46; no. 4; pp. 476 - 487
Main Authors:	Surin, V. L, Luchinina, Yu. A, Selivanova, D. S, Pustovoit, Ya. S, Karpova, I. V, Pivnik, A. V, Luk'ianenko, A. V, Kravchenko, S. K
Format:	Journal Article
Language:	English
Published:	Dordrecht Dordrecht : SP MAIK Nauka/Interperiodica 01-04-2010 SP MAIK Nauka/Interperiodica
Subjects:	Animal Genetics and Genomics Biomedical and Life Sciences Biomedicine Human Genetics Microbial Genetics and Genomics Porphyria Heme Biosynthesis Molecular Genetic Study Porphyria Cutanea Tarda Acute Intermittent Porphyria
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!