医学
外显子
前庭导水管
遗传学
复合杂合度
儿科
突变
听力损失
基因
生物
听力学
作者
Yongyi Yuan,Pu Dai,Qingwen Zhu,Dongyang Kang,Deliang Huang
出处
期刊:PubMed
日期:2009-06-01
卷期号:44 (6): 449-54
被引量:11
摘要
SLC26A4 mutations account for at least 10% of EVAS related hereditary hearing loss in China. It's of great importance to screen SLC26A4 gene for making aetiological diagnosis for deafness. The discovery of novel variants of SLC26A4 gene makes the mutational and polymorphic spectrum more plentiful in Chinese population. We also provide preliminary evidence for the hot spot areas of SLC26A4.
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