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Article

Rare mutations in the CYP21A2 gene detected in congenital adrenal hyperplasia.

Clinical biochemistry - 1 Sept 2009

Neocleous Vassos, Ioannou Yiannis S, Bartsota Margarita, Costi Constandina, Skordis Nicos, Phylactou Leonidas A

Abstract excerpt

OBJECTIVES: The purpose of this study was to identify and determine the frequencies of rare CYP21A2 gene mutations in patients with 21-hydroxylase deficiency (21-OHD) in the Cypriot population. DESIGN AND METHODS: Direct sequencing and MLPA analysis of the CYP21A2 gene. RESULTS: A group of famili...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19501079
DOI: 10.1016/j.clinbiochem.2009.05.015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19501079-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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