发明名称 |
NOVEL NUCLEIC ACIDS AND ASSOCIATED DIAGNOSTICS |
摘要 |
<p>The present invention relates to methods of diagnosing spondylocostal dysostosis (SCD) disorders, such as Jarcho-Levin syndrome, in humans for use in genetic counseling and linkage analyses. Methods and compositions for measuring the presence or absence of a specific mutation to Mesp2 associated with Jarcho-Levin syndrome, alone or in combination with other mutations associated with spondylocostal dysostosis, are provided.</p> |
申请公布号 |
WO2007056674(A2) |
申请公布日期 |
2007.05.18 |
申请号 |
WO2006US60497 |
申请日期 |
2006.11.02 |
申请人 |
STOWERS INSTITUTE FOR MEDICAL RESEARCH |
发明人 |
POURQUIE, OLIVIER;STAEHLING-HAMPTON, KAREN |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
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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