发明授权
US6150104A Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen
syndrome
有权
KVLQT1中的纯合突变导致Jervell和Lange Nielsen综合征
- 专利标题： Homozygous mutation in KVLQT1 which causes Jervell and Lange Nielsen syndrome
- 专利标题（中）： KVLQT1中的纯合突变导致Jervell和Lange Nielsen综合征
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申请号： US135021申请日： 1998-08-17
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公开(公告)号： US6150104A公开(公告)日： 2000-11-21
- 发明人: Igor Splawski , Mark T. Keating
- 申请人： Igor Splawski , Mark T. Keating
- 申请人地址： UT Salt Lake City
- 专利权人： University of Utah Research Foundation
- 当前专利权人： University of Utah Research Foundation
- 当前专利权人地址： UT Salt Lake City
- 主分类号： C07K14/705
- IPC分类号： C07K14/705 ; C12Q1/68 ; C07H21/04 ; C12N1/20 ; C12P19/34
摘要：
Jervell and Lange-Nielsen syndrome (JLN) is an autosomal recessive form of long QT syndrome. In addition to QT interval prolongation, this disorder is associated with congenital deafness. JLN is rare, but affected individuals are susceptible to cardiac arrhythmias with a high incidence of sudden death and short life expectancy. A homozygous mutation in KVLQT1, the potassium channel gene responsible for chromosome 11-linked long QT syndrome, is shown to be a cause of JLN.