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Article

[Mutational spectrum of the gene for 21-hydroxylase in the patients with congenital adrenal hyperplasia from Bashkortostan].

Genetika - 1 Oct 2008

Akhmetova V L, Ramova Z F, Malievskiĭ O A, Khusnutdinova E K

Abstract excerpt

Molecular genetic analysis of congenital adrenal hyperplasia (CAH) was carried out in 59 patients from the Republic of Baskortostan, which belonged to two main groups. The first group was represented by 35 patients with salt wasting form of the disease, and the second group was comprised of 24 patients with simple virilizing form. Analysis of the CYP21A2 gene in the patients with congenital adrenal hyperplasia...

Topics

Adrenal Hyperplasia, Congenital
Bashkiria
Chromosomes, Human
Female
Genotype
Humans
Male
Mutation
Steroid 21-Hydroxylase

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 19062540

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-19062540-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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