中国现代神经疾病杂志 ›› 2017, Vol. 17 ›› Issue (7): 471-476. doi: 10.3969/j.issn.1672-6731.2017.07.001

• 专论 • 上一篇    下一篇

2 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   

  1. 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)
  • 出版日期:2017-07-25 发布日期:2017-08-02
  • 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)

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

TANG Bei-sha1, 2, ZENG Sheng1, LI Kai1   

  1. 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).

关键词: 遗传性疾病, 先天性, 基因, 突变, 综述

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