Identification of a gene associated with spinocerebellar...

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2598281

The present invention provides methods that include analyzing an SCA5 polynucleotide, and determining whether the SCA5 polynucleotide includes a mutation. The methods may be used to identify a subject that is at risk or not at risk for developing spinocerebellar ataxia type 5. The present invention also provides isolated polynucleotides having a mutation present in an SCA5 polynucleotide.

La présente invention concerne des méthodes consistant à analyser un polynucléotide SCA5, ainsi qu'à déterminer si le polynucléotide SCA5 comprend une mutation. Lesdites méthodes peuvent être utilisées pour identifier un sujet présentant un risque ou non de développer une ataxie spinocérébelleuse de type 5. La présente invention concerne également des polynucléotides isolés présentant une mutation présente au niveau d'un polynucléotide SCA5.

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