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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 with the classical form of 21-hydroxylase deficiency using PCR and RFLP. RESULTS: Mutations were detected in 78...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 18825878
DOI: 10.1515/jpem.2008.21.8.781

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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