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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. The nature of this mutation was studied by polymerase chain reactions in two points: 3rd and 8th exons. The mutation in...

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PMID: 7742654

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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[Congenital dysfunction of adrenal cortex - detection of new mutant gene of 21-hydroxylase].PMID 7742654Read ↗

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[Diagnosis of heterozygote carrier of mutant gene of 21-hydroxylase].Semantic proximity Read ↗

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