Article
[Replacement of androgen receptor gene causes complete androgen insensitivity in a large family].
Zhonghua fu chan ke za zhi - 1 Nov 2008
Qin Ying-Ying, Gao Xuan, You Li, Li Yuan, Yan Jun-Hao, Zhao Yue-Ran, Chen Zi-Jiang
Abstract excerpt
OBJECTIVE: To confirm the clinical diagnosis of complete androgen insensitivity syndrome (CAIS) by molecular genetic testing in a large family. METHODS: PCR was performed to amplify the coding region of androgen gene, followed by direct sequencing in the patients with CAIS and relatives in this family. RESULTS: A missense mutation Arg773His was identified in the patients (homozygous) and carriers (heterozygous)....
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