Fig4 gene mutations in neurodegeneration

Details Fig4 gene mutations in neurodegeneration Fig4 gene mutations in neurodegeneration

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01) C12N 15/12 (2006.01)

Patent

CA 2716099

The present invention relates to neurological disease, in particular to mutations in the FIG4 gene. The present invention also provides assays for the detection of variant FIG4 alleles, and assays for detecting FIG4 polymorphisms and mutations associated with disease states such as ALS.

La présente invention concerne une maladie neurologique, en particulier des mutations dans le gène FIG4. La présente invention concerne également des dosages pour la détection de la variante dallèles FIG4, et des dosages pour la détection de polymorphismes FIG4 et de mutations associées à des états maladifs tels que la SLA.

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