Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
作者信息
Lee Y J, Park D, Kim S Y, Park W J
出版信息
J Med Genet. 2003 Aug;40(8):629-31. doi: 10.1136/jmg.40.8.629.
Abstract
摘要
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Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.先天性和儿童期发病的常染色体隐性遗传性耳聋中的致病突变而非多态性会破坏TMPRSS3的蛋白水解活性。
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