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Analysis of Heterozygous PRKN Variants and Copy-Number Variations in Parkinson's Disease.

Eric YuUladzislau RudakouLynne KrohnKheireddin MuftiJennifer A RuskeyFarnaz AsayeshMehrdad A EstiarDan SpiegelmanMatthew SurfaceStanley FahnCheryl H WatersLior GreenbaumAlberto J EspayYves DauvilliersNicolas DupréGuy A RouleauSharon Hassin-BaerEdward A FonRoy N AlcalayZiv Gan Or
Published in: Movement disorders : official journal of the Movement Disorder Society (2020)
Heterozygous single-nucleotide variants and CNVs in PRKN are not associated with PD. Molecular inversion probes allow for rapid and cost-effective detection of all types of PRKN variants, which may be useful for pretrial screening and for clinical and basic science studies targeting specifically PRKN patients. © 2020 International Parkinson and Movement Disorder Society.
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