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Method of prognosing and diagnosing hereditary spastic paraplegia, mutant nucleic acid molecules and polypeptides
Method of prognosing and diagnosing hereditary spastic paraplegia, mutant nucleic acid molecules and polypeptides
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机译:诊断和诊断遗传性痉挛性截瘫的方法,突变核酸分子和多肽
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摘要
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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机译:一种在人类受试者中诊断遗传性痉挛性截瘫(HSP)的存在或预测发生HSP的风险的方法,其包括检测编码包含图1的序列的多肽的基因中缺陷的存在或不存在。在受试者的核酸样品中的 9 B>(SEQ ID NO:19),由此缺陷的检测表明受试者具有或有发展HSP的风险。
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