Article
[Congenital dysfunction of adrenal cortex - detection of new mutant gene of 21-hydroxylase].
Vestnik Rossiiskoi akademii meditsinskikh nauk - 1 Jan 1994
Dzenis I G, Evgrafov O V, Brykova E K, Iudina T N, Bakharev V A, Fanchenko N D
Abstract excerpt
The paper presents the results of investigations of 30 Slavic families with different types of congenial adrenal hyperplasia (CAH). The classic types of CAH were established to be associated with HLA B14 in most cases. This fact proves the presence of new mutation of 21-hydroxylase (21-OH) gene....
Topics
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Female
- Genetic Markers
- HLA-B Antigens
- HLA-B14 Antigen
- Homozygote
- Humans
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Pregnancy
- Steroid 21-Hydroxylase