17 alpha-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS

Wu Chaoming; Fan Shanshan; Qian Yanying; Zhou Yingying; Jin Jian; Dai Zhijuan; Jiang Ling

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17 alpha-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS

机译：17α-羟化酶/ 17,20-裂纹缺乏：八种中国患者的临床和分子特征

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Objective: 17 alpha- hydroxylase/17, 20-lyase deficiency (17OHD) is caused by mutations in the cytochrome P450 17A1 (CYP17A1) gene. To better understand 17OHD, a rare disease, we described the clinical features and performed CYP17A1 gene analysis in 8 affected Chinese patients.

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《Endocrine practice: official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists》 |2017年第5期|共7页
作者
Wu Chaoming; Fan Shanshan; Qian Yanying; Zhou Yingying; Jin Jian; Dai Zhijuan; Jiang Ling;
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Shandong Univ Qilu Hosp Dept Endocrinol Jinan 250012 Shandong Peoples R China;

Shandong Univ Qilu Hosp Dept Endocrinol Jinan 250012 Shandong Peoples R China;

Wenzhou Med Univ Affiliated Hosp 2 Dept Endocrinol Wenzhou Zhejiang Peoples R China;

Wenzhou Med Univ Affiliated Hosp 2 Dept Endocrinol Wenzhou Zhejiang Peoples R China;

Wenzhou Med Univ Affiliated Hosp 2 Dept Endocrinol Wenzhou Zhejiang Peoples R China;

Wenzhou Med Univ Affiliated Hosp 2 Dept Endocrinol Wenzhou Zhejiang Peoples R China;

Shandong Univ Qilu Hosp Dept Endocrinol Jinan 250012 Shandong Peoples R China;

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正文语种 eng
中图分类内分泌腺疾病及代谢病;
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机译：17α-羟化酶/ 17,20-裂纹缺乏：八种中国患者的临床和分子特征
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17 alpha-HYDROXYLASE/17, 20-LYASE DEFICIENCY: CLINICAL AND MOLECULAR CHARACTERIZATION OF EIGHT CHINESE PATIENTS

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