A novel ?-synuclein missense mutation in Parkinson disease.
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ABSTRACT:
SUBMITTER: Proukakis C
PROVIDER: S-EPMC3653201 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Publications
A novel α-synuclein missense mutation in Parkinson disease.
Proukakis Christos C Dudzik Christopher G CG Brier Timothy T MacKay Donna S DS Cooper J Mark JM Millhauser Glenn L GL Houlden Henry H Schapira Anthony H AH
Neurology 20130220 11
Alpha-synuclein (SNCA) is central to the pathogenesis of Parkinson disease (PD), with 3 missense mutations reported to date. We report a novel mutation (p.H50Q) in a pathologically proven case. ...[more]
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