Article
Whole-Exome Sequencing in Familial Parkinson Disease.
JAMA neurology - 1 Jan 2016
Farlow Janice L, Robak Laurie A, Hetrick Kurt, Bowling Kevin, Boerwinkle Eric, Coban-Akdemir Zeynep H, Gambin Tomasz, Gibbs Richard A, Gu Shen, Jain Preti, Jankovic Joseph, Jhangiani Shalini, Kaw Kaveeta, Lai Dongbing, Lin Hai, Ling Hua, Liu Yunlong, Lupski James R, Muzny Donna, Porter Paula, Pugh Elizabeth, White Janson, Doheny Kimberly, Myers Richard M, Shulman Joshua M, Foroud Tatiana
Abstract excerpt
IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors. OBJECTIVE: To identify genetic variants contributing to disease risk in familial PD. DESIGN, SETTING, AND PARTICIPANTS: A 2-stage study design that included a discovery cohort of families with PD and a replication cohort of familial probands was used. In the...
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