| 发明名称 |
METHOD FOR DIAGNOSING A SKELETAL CILIOPATHY |
| 摘要 |
The present invention relates to a method for diagnosing a skeletal ciliopathy. |
| 申请公布号 |
US2015106960(A1) |
申请公布日期 |
2015.04.16 |
| 申请号 |
US201314391172 |
申请日期 |
2013.04.10 |
| 申请人 |
INSERM (INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE) ;ASSISTANCE PUBLIQUE HOPITAUX DE PARIS ;UNIVERSITE PARIS DESCARTES ;FONDATION IMAGINE |
发明人 |
Cormier-Daire Valerie;Kaplan Josseline;Perrault Isabelle;Rozet Jean-Michel;Munnich Arnold;Saunier Sophie |
| 分类号 |
C12Q1/68;A01K67/027 |
主分类号 |
C12Q1/68 |
| 代理机构 |
|
代理人 |
|
| 主权项 |
1. A method for diagnosing a skeletal ciliopathy in a subject, said method comprising detecting a mutation in the IFT140 gene in a biological sample obtained from said subject, wherein the presence of an IFT140 mutation is indicative of a skeletal ciliopathy or a risk of having a skeletal ciliopathy. |
| 地址 |
Paris FR |
