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Genetic analyses of Chinese patients with digenic oculocutaneous albinism

ISSN号：0366-6999
期刊名称：CHINESE MEDICAL JOURNAL
时间：2013.1.20
页码：226-230
分类：Q959.212.06[生物学—动物学] S965.399[农业科学—水产养殖;农业科学—水产科学]
作者机构：[1]Department of Dermatology, Beijing Tongren Hospital, CapitalMedical University, Beijing 100730, China, [2]Department of Dermatology, Xuanwu Hospital, Capital MedicalUniversity, Beijing 100053, China, [3]State Key Laboratory of Molecular Developmental, ,. Blology,Institute of Genetics and Developmental Biology, ChineseAcademy of Sciences, Beijing lOOlO1, China
相关基金：This work was supported in part by grants from the National Natural Science Foundation of China （No. 81101182）, the Basic-Clinical Medical Research Program of Capital Medical University, China （No. I lJL40）, and the State Key Laboratory of Molecular Developmental Biology, China. The authors declare no conflict of interest.
相关项目：基于核心家系的外显子组测序鉴定眼皮肤白化病致病基因

作者： Wei Ai-hua|Yang Xiu-min|Lian Shi|Li Wei|

关键词：白化病, 患者, 遗传分析, 中国, 基因组DNA提取, 皮肤, 等位基因多态性, 突变等位基因, oculocutaneous albinism, genetic testing, digenic mutation

中文摘要：

Dr. WEI Ai-hua, Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing 100730, China （Tel ＆ Fax： 86-10-58268092. Email： weiaihua3000@ 163.com）

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