Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3

被引：35

作者：

Lee, YJ

Park, D

Kim, SY

Park, WJ

机构：

[1] Kwangju Inst Sci & Technol, Dept Life Sci, Kwangju 500712, South Korea

[2] Kwangju Inst Sci & Technol, Natl Res Lab Proteolysis, Kwangju 500712, South Korea

来源：

JOURNAL OF MEDICAL GENETICS | 2003年 / 40卷 / 08期

关键词：

D O I：

10.1136/jmg.40.8.629

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：629 / 631

页数：3

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