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[Mutation analysis in families with 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2007

Wang Hui, Jiang Ling, Wang Ping-ping, Zhou Hai-bin, Wang Jia-li, Song Lu-lu

Abstract excerpt

OBJECTIVE: To investigate the steroid 21-hydroxylase gene (CYP21) mutations in families with 21-hydroxylase deficiency (21-OHD). METHODS: The CYP21 gene mutations were detected in four patients with 21-hydroxylase deficiency and their relatives. The genomic DNA of the patients was isolated from whole blood.Two pairs of primers were used to amplify the CYP21 gene. The amplified PCR products were purified by...

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PMID: 18067083

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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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