Usher综合征
外显子
色素性视网膜炎
遗传学
生物
突变
听力损失
基因
基因亚型
医学
听力学
作者
Greizy López,Nancy Gélvez,Marta Lucía Tamayo
出处
期刊:PubMed
日期:2011-03-01
卷期号:31 (1): 82-90
被引量:4
标识
DOI:10.1590/s0120-41572011000100010
摘要
Mutations in the usherin short isoform were identified in 38% of a sample of 26 USH2 cases. Molecular diagnosis was established in 7 of the 26.
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