Article
Genomic investigation of alpha-synuclein multiplication and parkinsonism.
Annals of neurology - 1 Jun 2008
Ross Owen A, Braithwaite Adam T, Skipper Lisa M, Kachergus Jennifer, Hulihan Mary M, Middleton Frank A, Nishioka Kenya, Fuchs Julia, Gasser Thomas, Maraganore Demetrius M, Adler Charles H, Larvor Lydie, Chartier-Harlin Marie-Christine, Nilsson Christer, Langston J William, Gwinn Katrina, Hattori Nobutaka, Farrer Matthew J
Abstract excerpt
OBJECTIVE: Copy number variation is a common polymorphic phenomenon within the human genome. Although the majority of these events are non-deleterious they can also be highly pathogenic. Herein we characterize five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the alpha-synuclein gene (SNCA). METHODS: A methodological approach using...
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