A novel α-synuclein missense mutation in Parkinson disease

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.

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Detalles Bibliográficos
Autores principales: Proukakis, Christos, Dudzik, Christopher G., Brier, Timothy, MacKay, Donna S., Cooper, J. Mark, Millhauser, Glenn L., Houlden, Henry, Schapira, Anthony H.
Formato: Artigo
Lenguaje:Inglês
Publicado: Lippincott Williams & Wilkins 2013
Materias:
Clinical/Scientific Notes
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3653201/
https://ncbi.nlm.nih.gov/pubmed/23427326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e31828727ba
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