发明名称 |
Loss of Function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits |
摘要 |
The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.
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申请公布号 |
US2011195863(A1) |
申请公布日期 |
2011.08.11 |
申请号 |
US201113024084 |
申请日期 |
2011.02.09 |
申请人 |
YALE UNIVERSITY |
发明人 |
LIFTON RICHARD P.;SCHOLL UTE |
分类号 |
C40B30/04;C07H21/00;C07K14/47;C12N1/00;C12N5/10;C12N15/63;C12Q1/02;C12Q1/68;C40B30/00;G01N33/50;G01N33/53;G01N33/68 |
主分类号 |
C40B30/04 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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