Invention Grant
US08394589B2 Methods for diagnosing scapuloperoneal spinal muscular atrophy or Charcot-Marie-Tooth disease type 2C by detecting mutations in TRPV4
有权
通过检测TRPV4突变来诊断肩峰肩胛骨脊髓性肌萎缩或2C型Charcot-Marie-Tooth病的方法
- Patent Title: Methods for diagnosing scapuloperoneal spinal muscular atrophy or Charcot-Marie-Tooth disease type 2C by detecting mutations in TRPV4
- Patent Title (中): 通过检测TRPV4突变来诊断肩峰肩胛骨脊髓性肌萎缩或2C型Charcot-Marie-Tooth病的方法
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Application No.: US12974209Application Date: 2010-12-21
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Publication No.: US08394589B2Publication Date: 2013-03-12
- Inventor: Teepu Siddique , Han-Xiang Deng , Jianhua Yan
- Applicant: Teepu Siddique , Han-Xiang Deng , Jianhua Yan
- Applicant Address: US IL Evanston
- Assignee: Northwestern University
- Current Assignee: Northwestern University
- Current Assignee Address: US IL Evanston
- Agency: Casimir Jones, S.C.
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C07H21/02 ; C07H21/04 ; C07K14/435 ; G01N33/53
Abstract:
The present invention provides methods, kits, and compositions for detecting mutations in transient receptor potential cation channel, subfamily V, member 4 (TRPV4). In particular, mutations are detected in TRPV4 to detect diseases such as scapuloperoneal spinal muscular atrophy (SPSMA) and hereditary motor and sensory neuropathy type IIC (HMSN IIC) or Charcot-Marie-Tooth disease type 2C (CMT2C).
Public/Granted literature
- US20110151445A1 ALLELIC DISORDERS CAUSED BY MUTATIONS IN TRPV4 Public/Granted day:2011-06-23
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