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
发明人:
Catherine Badens,Isabelle Thuret,Hélène Guizouarn
申请号：
US15578982
公开号：
US20180136227A1
申请日:
2016.06.15
申请国别(地区):
US
年份:
2018
代理人:
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.
