Invention Grant
- Patent Title: Method of prognosing and diagnosing hereditary spastic paraplegia, mutant nucleic acid molecules and polypeptides
- Patent Title (中): 预测和诊断遗传性痉挛性截瘫,突变核酸分子和多肽的方法
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Application No.: US11983957Application Date: 2007-11-13
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Publication No.: US07989167B2Publication Date: 2011-08-02
- Inventor: Guy A. Rouleau , Paul Valdmanis , Inge Meijer , Pierre Drapeau , Patrick Dion
- Applicant: Guy A. Rouleau , Paul Valdmanis , Inge Meijer , Pierre Drapeau , Patrick Dion
- Applicant Address: CA Montreal CA Montreal CA Montreal
- Assignee: Val-Chum L.P.,The Royal Institution for the Advancement of Learning/McGill University,Universite de Montreal
- Current Assignee: Val-Chum L.P.,The Royal Institution for the Advancement of Learning/McGill University,Universite de Montreal
- Current Assignee Address: CA Montreal CA Montreal CA Montreal
- Agency: Hamilton, Brook, Smith & Reynolds, P.C.
- Main IPC: C12P19/34
- IPC: C12P19/34 ; G01N33/483

Abstract:
A method for diagnosing the presence of hereditary spastic paraplegia (HSP) or predicting the risk of developing HSP in a human subject, comprising detecting the presence or absence of a defect in a gene encoding a polypeptide comprising the sequence of FIG. 9 (SEQ ID NO: 19), in a nucleic acid sample of the subject, whereby the detection of the defect is indicative that the subject has or is at risk of developing HSP.
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