Article
[Mutation in the promoter region of 21-hydroxylase gene of patients with congenital adrenal hyperplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 1999
Zhao Y, Ye J, Yang X, Gu X
Abstract excerpt
OBJECTIVE: To investigate the mutations in the 21-hydroxylase gene promoter region of patients with congenital adrenal hyperplasia (CAH). METHODS: The authors amplified a 1.6 kb fragment of the CYP21 gene which was confirmed by endonuclease digestion. The PCR product was re-amplified with promoter-region-specific primers. The amplified fragments were analyzed using SSCP and endonuclease digestion methods....
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