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

doi:10.3969/j.issn.1672-6731.2017.07.001

Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2017, Vol. 17 ›› Issue (7): 471-476. doi: 10.3969/j.issn.1672-6731.2017.07.001

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

TANG Bei-sha^{1, 2}, ZENG Sheng¹, LI Kai¹

¹Department of Neurology, Xiangya Hospital, ²State Key Laboratory of Medical Genetics, National Clinical Research Center for Geriatric Diseases, Central South University, Changsha 410008, Hu'nan, China

Online:2017-07-25 Published:2017-08-02
Contact: TANG Bei-sha (Email: bstang7398@163.com)
Supported by:
This study was supported by Key Project of the National Natural Science Foundation of China (No. 81130021).

人类孟德尔遗传性疾病基因组序列变异解析与临床规范

唐北沙, 曾胜, 李凯

410008 长沙，中南大学湘雅医院神经内科（唐北沙、曾胜、李凯），医学遗传学国家重点实验室国家老年疾病临床医学研究中心（唐北沙）

通讯作者: 唐北沙（Email：bstang7398@163.com）
基金资助:
国家自然科学基金重点资助项目（项目编号：81130021）

Abstract

Key words: Genetic diseases, inborn, Genes, Mutation, Review

关键词: 遗传性疾病, 先天性, 基因, 突变, 综述

TANG Bei-sha, ZENG Sheng, LI Kai. Clinical standards and interpretation of gene sequence variants in human Mendelian disorders[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017, 17(7): 471-476.

唐北沙, 曾胜, 李凯. 人类孟德尔遗传性疾病基因组序列变异解析与临床规范[J]. 中国现代神经疾病杂志, 2017, 17(7): 471-476.

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

人类孟德尔遗传性疾病基因组序列变异解析与临床规范

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

人类孟德尔遗传性疾病基因组序列变异解析与临床规范

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