IDENTIFICATION OF A NOVEL GENE UNDERLYING FAMILIAL SPASTIC PARAPLEGIA
摘要
Methods of identifying polymorphisms associated with hereditary spastic paraplegia (SPG), are described. The polymorphisms associated with SPG include specific mutations in the receptor expression enhancing protein 1 (REEP1) gene. Also described are methods of diagnosis of SPG.
申请公布号
CA2647224(A1)
申请公布日期
2007.11.08
申请号
CA20072647224
申请日期
2007.03.28
申请人
DUKE UNIVERSITY
发明人
NAGAN, NARASIMHAN;BRAASTAD, COREY;PERICAK-VANCE, MARGARET;ZHU, HUI;ASHLEY-KOCH, ALLISON;JONES, JEFFREY G.;ZUCHNER, STEPHAN