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Article

Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.

Clinical biochemistry - 1 Apr 2014

Ma Dingyuan, Chen Yulin, Sun Yun, Yang Bing, Cheng Jian, Huang Meilian, Zhang Jin, Zhang Jingjing, Hu Ping, Lin Ying, Jiang Tao, Xu Zhengfeng

Abstract excerpt

OBJECTIVE: 21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired cortisol synthesis. This study aimed to design a reliable and rational approach for identifying mutations in the CYP21A2 gene and to characterize the molecular basis of 21-OHD in 30 Chinese patients. DESIGN AND METHODS: Copy number variations...

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Identifiers

PMID: 24503005
DOI: 10.1016/j.clinbiochem.2014.01.019

Genes

TNXB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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