A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family

首页> 外文期刊>European journal of ophthalmology >A novel missense mutation of CRYBB1 causes congenital cataract in a Chinese family

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机译：CRYBB1的新型错义突变导致中国家庭先天性白内障

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摘要

Objective of the study:

机译：研究目的：

来源
《European journal of ophthalmology》 |2021年第3期|1064-1069|共6页
作者
Ji Yanan; Zhao Xiangyu; Zhang JuanmeiZhang DanTian ChunliuZhang LinlinZhao YoucaiZhao Jun;
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作者单位

Qingdao Univ, Med Coll, Qingdao, Peoples R China;

Linyi Peoples Hosp, Dept Med Genet, Linyi, Shandong, Peoples R China;

Linyi Peoples Hosp, Dept Ophthalmol, 27 Jiefang Rd, Linyi 276003, Shandong, Peoples R ChinaWeifang Med Univ, Weifang, Peoples R China;

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收录信息
原文格式 PDF
正文语种英语
中图分类眼科学;
关键词
CRYBB1; congenital cataract; missense mutation; phenotype; targeted exome sequencing;

机译：CRYBB1;先天性白内障;错义突变;表型;靶向外显子组测序;

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