人类孟德尔疾病基因序列变异的临床标准和解释

Q4 Medicine

中国现代神经疾病杂志 Pub Date : 2017-07-25 DOI:10.3969/cjcnn.v17i7.1624

B. Tang, Sheng Zeng, Kai Li

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引用次数: 0

摘要

人类孟德尔病基因序列变异的临床标准与解读唐蓓莎1,2，曾胜1，李凯1中南大学湘雅医院神经内科医学遗传学国家重点实验室，国家老年病临床研究中心，湖南长沙410008通讯作者:唐蓓莎(Email:bstang7398@163.com)国家自然科学基金重点项目(81130021)资助。·专论·

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Clinical standards and interpretation of gene sequence variants in human Mendelian disorders

Clinical standards and interpretation of gene sequence variants in human Mendelian disorders TANG Bei⁃sha1, 2, ZENG Sheng1, LI Kai1 Department of Neurology, Xiangya Hospital, State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu'nan, China Corresponding author: TANG Bei⁃sha (Email: bstang7398@163.com) This study was supported by Key Project of the National Natural Science Foundation of China (No. 81130021). ·专论·

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