遗传性肾脏病基因诊断和高通量测序技术在诊断中的应用进展

<正>一、遗传性肾脏病的诊断1.遗传性疾病概述遗传性疾病包括单基因遗传病、多基因遗传病和染色体病,单基因遗传病种类多但发生率低,大多是罕见病,大约7 000多种,是由一个基因的序列异常导致的遗传性疾病,又可以分为常染色体隐性遗传病、常染色体显性遗传病和性连锁遗传和线粒体病。多基因遗传疾病约有100多种,都是常见疾病,是指2对以上的致病基因的累...

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Published inLinchuang Shenzangbing Zazhi pp. 644 - 647
Main Author 周建华
Format Journal Article
LanguageChinese
Published Editorial Department of Journal of Clinical Nephrology 01.01.2016
Online AccessGet full text
ISSN1671-2390
DOI10.3969/j.issn.1671-2390.2016.11.001

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Abstract <正>一、遗传性肾脏病的诊断1.遗传性疾病概述遗传性疾病包括单基因遗传病、多基因遗传病和染色体病,单基因遗传病种类多但发生率低,大多是罕见病,大约7 000多种,是由一个基因的序列异常导致的遗传性疾病,又可以分为常染色体隐性遗传病、常染色体显性遗传病和性连锁遗传和线粒体病。多基因遗传疾病约有100多种,都是常见疾病,是指2对以上的致病基因的累
AbstractList <正>一、遗传性肾脏病的诊断1.遗传性疾病概述遗传性疾病包括单基因遗传病、多基因遗传病和染色体病,单基因遗传病种类多但发生率低,大多是罕见病,大约7 000多种,是由一个基因的序列异常导致的遗传性疾病,又可以分为常染色体隐性遗传病、常染色体显性遗传病和性连锁遗传和线粒体病。多基因遗传疾病约有100多种,都是常见疾病,是指2对以上的致病基因的累
Author 周建华
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Snippet <正>一、遗传性肾脏病的诊断1.遗传性疾病概述遗传性疾病包括单基因遗传病、多基因遗传病和染色体病,单基因遗传病种类多但发生率低,大多是罕见病,大约7...
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Title 遗传性肾脏病基因诊断和高通量测序技术在诊断中的应用进展
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