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Article

Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Aug 2008

Sadeghi F, Yurur-Kutlay N, Berberoglu M, Cetinkaya E, Aycan Z, Kara C, Ilgin Ruhi H, Ocal G, Siklar Z, Elhan A, Tukun A

Abstract excerpt

UNLABELLED: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders mainly due to defects in the steroid 21-hydroxylase (CYP21A2) gene. METHODS: To determine the mutational spectrum in the Turkish population, the CYP21A2 active gene was analyzed in 100 unrelated patients...

Topics

Adrenal Hyperplasia, Congenital
Child
Child, Preschool
DNA Mutational Analysis
Female
Gene Frequency
Humans
Infant
Male
Mutation
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steroid 21-Hydroxylase

Turkey

Source

Identifiers

PMID: 18825878
DOI: 10.1515/jpem.2008.21.8.781

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-18825878-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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