Article
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease.
Lancet (London, England) - 1 Jan 2000
Ibáñez P, Bonnet A-M, Débarges B, Lohmann E, Tison F, Pollak P, Agid Y, Dürr A, Brice A
Abstract excerpt
The alpha-synuclein gene (SNCA) has been implicated in autosomal dominant forms of Parkinson's disease. We screened 119 individuals from families with this rare form of the disease for SNCA duplications by semiquantitative multiplex PCR. Two patients had duplications, which were confirmed by analysis of intragenic and flanking microsatellite markers. The phenotype in both patients was indistinguishable from...
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