DIAGNOSIS OF HEREDITARY SPASTIC PARAPLEGIAS (HSP) BY DETECTION OF A MUTATION IN THE KIAA1840 GENE OR PROTEIN
摘要
The invention relates to an ex vivo method of diagnosing or predicting an hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the KIAA1840 gene or protein (spatacsin), wherein said mutation is indicative of. an hereditary spastic paraplegias (HSP).
申请公布号
WO2008032218(A3)
申请公布日期
2008.06.12
申请号
WO2007IB03535
申请日期
2007.09.11
申请人
INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM);AZZEDINE, HAMID;BRICE, ALEXIS;STEVANIN, GIOVANNI;SANTORELLI, FILIPPO;DENORA, PAOLA
