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 an...
Topics
- Adrenal Hyperplasia, Congenital
- Alleles
- Base Sequence
- Chromosomes, Human
- Exons
- Family Health
- Female
- Founder Effect
- Genetics, Population
- HLA Antigens
- HLA-A Antigens
- HLA-B Antigens
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Male
- Molecular Sequence Data