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Article

[Analysis of CYP21A2 gene mutation in one case of congenital adrenal hyperplasia].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2013

Lin Xiao-Mei, Wu Ben-Qing, Huang Jin-Jie, Li Bo, Fan Yi, Lin Lin-Hua, Yao Qiu-Xuan, Wu Wen-Yuan, Yu Lian

Abstract excerpt

CYP21A2 gene mutations in a child with congenital adrenal hyperplasia (CAH), and the child's parents, were detected in the study. The clinical features, treatment monitoring and molecular genetic mechanism of CAH are reviewed. In the study, DNA was extracted from peripheral blood samples using the QIAGEN Blood DNA Mini Kit; a highly specific PCR primer for CYP21A2 gene was designed according to the sequence...

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PMID: 24229585

Genes

FAH

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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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