| 发明名称 |
TREATMENT AND DIAGNOSIS OF HEREDITARY XEROCYTOSIS |
| 摘要 |
The invention relates to an in vitro method of diagnosis of hereditary xerocytosis in a subject, comprising genotyping the KCNN4 gene encoding the Gardos channel in said subject. The invention also relates to an inhibitor of the KCNN4 protein for use in the treatment of hereditary xerocytosis, in particular in a human subject who is a carrier of the missense mutation c.1055G>A or c.844G>A in the KCNN4 gene. |
| 申请公布号 |
WO2016202854(A1) |
申请公布日期 |
2016.12.22 |
| 申请号 |
WO2016EP63745 |
申请日期 |
2016.06.15 |
| 申请人 |
UNIVERSITE D'AIX-MARSEILLE;ASSISTANCE PUBLIQUE-HOPITAUX DE MARSEILLE;INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM);CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE;UNIVERSITE DE NICE SOPHIA ANTIPOLIS |
发明人 |
BADENS, Catherine;THURET, Isabelle;GUIZOUARN, Hélène |
| 分类号 |
A61K31/00;A61P7/00;G01N33/50 |
主分类号 |
A61K31/00 |
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