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[Analysis of CYP21A2 gene mutations among patients with classical steroid 21-hydroxylase deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2016

Su Yueqing, Chen Hanqiang, Zhu Wenbin, Wang Jing, Zhou Jinfu, Chen Yao, Zhao Hong, Zeng Yinglin, Lin Feng, Zhang Honghua, Lin Qingying

Abstract excerpt

OBJECTIVE: To assess the frequencies of CYP21A2 gene mutations among patients from Fujian area with classical 21-hydroxylase deficiency. METHODS: For 19 probands from different families affected with classical steroid 21-hydroxylase deficiency and 74 family members, mutations of the CYP21A2 gene were analyzed with combined nested polymerase chain reaction, Sanger sequencing and multiplex ligation-dependent probe...

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PMID: 27984606
DOI: 10.3760/cma.j.issn.1003-9406.2016.06.009

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