Article
Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia.
Human mutation - 1 Jan 1995
Evgrafov O V, Polyakov A V, Dzenis I G, Baharev V A
Abstract excerpt
Mutations in 21 hydroxylase gene were investigated in 40 Russian patients with congenital adrenal hyperplasia. Quantitative amplification/restriction procedure was used for detection of mutations involving promoter region, 3 and 8 exons. For affected chromosomes alleles of tightly linked HLA A and B genes were defined, as well as 5 different alleles or allele combinations HLA DQA1 gene. The most frequent (> 20%...
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