首页> 外文期刊>Molecular Biology >Frequency of the 35delG Mutation of the Connexin 26 Gene (GJB2) in Patients with Non-Syndromic Recessive Deafness from Bashkortostan and in Ethnic Groups of the Volga-Ural Region
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Frequency of the 35delG Mutation of the Connexin 26 Gene (GJB2) in Patients with Non-Syndromic Recessive Deafness from Bashkortostan and in Ethnic Groups of the Volga-Ural Region

机译:巴什科尔托斯坦共和国和伏尔加河地区少数民族非综合征性隐性耳聋患者连接蛋白26基因(GJB2)35delG突变的频率

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摘要

Congenital deafness is a relatively common human disorder, occurring in one per 1000 newborns on average Deafness is genetically determined in about half of patients. Of all cases of non-syndromic deafness, 75% are autosomal recessive, 10-15% autosomal dominant, and 10-15% X-linked [1-3].
机译:先天性耳聋是一种相对常见的人类疾病,平均每千名新生儿中就有一个发生。遗传上确定约有一半的患者是耳聋。在所有非综合征性耳聋病例中,75%为常染色体隐性遗传,10-15%为常染色体显性遗传,10-15%X连锁[1-3]。

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