Article
[Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17a-hydroxylase/17, 20 lyase deficiency].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2009
Liu Bing-li, Qiao Jie, Chen Xia, Liang Jun, Zuo Chun-lin, Gu Yan-yun, Han Bing, Gong Jing, Ru Ying, Lu Ying-li, Wu Wan-ling, Chen Ming-dao, Song Huai-dong
Abstract excerpt
OBJECTIVE: To investigate the clinical and genetic characteristics of 7 patients from 5 families with 17a-hydroxylase/17,20 lyase deficiency (17OHD) and the CYP17A1 mutation in Chinese. METHODS: Clinical features and laboratory data were collected from 5 families with 17OHD. PCR direct sequencing was performed to screen the mutation of CYP17A1 gene of the patients. Polymerase chain reaction-restriction fragment...
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