色素性视网膜炎
系谱图
错义突变
遗传学
移码突变
外显子
无义突变
突变
生物
桑格测序
基因
医学
作者
Weining Rong,Chen Xue-juan,Huiping Li,Yani Liu,Xunlun Sheng
出处
期刊:PubMed
日期:2014-06-01
卷期号:50 (6): 434-9
被引量:1
摘要
Retinitis pigmentosa is a kind of genetic eye disease with diversity clinical phenotypes. Rapid and effective genetic diagnosis technology combined with clinical characteristics analysis is helpful to improve the level of clinical diagnosis of RP.
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