Pkd mutations and evaluation of same

C - Chemistry – Metallurgy – 12 – Q

Patent

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C12Q 1/68 (2006.01)

Patent

CA 2658421

The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.

La présente invention concerne des procédés de détection de nouvelles mutations dans un gène PKD1 et/ou PKD2 qui ont été identifiées comme étant associées à une polykystose rénale autosomique dominante (ADPKD) dans le but de détecter ou prévoir la survenance de ADPKD dans un individu.

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