发明名称 |
METHODS FOR DIAGNOSING AND TREATING MYHRE SYNDROME |
摘要 |
The present invention relates to methods for diagnosing and treating Myhre Syndrome. The invention provides a method for diagnosing or predicting Myhre Syndrome, or a risk of Myhre Syndrome, in a subject, which method comprises detecting a mutation in SMAD4 gene, as compared to a control population, wherein the presence of said mutation is indicative of Myhre Syndrome or of a risk of Myhre Syndrome. The present invention also relates to an inhibitor of the SMAD4-mediated TGF&bgr;/BMP signalling pathway for use in the treatment of Myhre Syndrome. |
申请公布号 |
EP2737083(A1) |
申请公布日期 |
2014.06.04 |
申请号 |
EP20120745442 |
申请日期 |
2012.07.27 |
申请人 |
INSERM (INSTITUT NATIONAL DE LA SANTÉ ET DE LA RECHERCHE SCIENTIFIQUE);UNIVERSITÉ PARIS DESCARTES - PARIS V |
发明人 |
CORMIER-DAIRE, VALÉRIE;LE GOFF, CARINE;MUNNICH, ARNOLD |
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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