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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Bibliografski detalji
Glavni autori: Proukakis, Christos, Dudzik, Christopher G., Brier, Timothy, MacKay, Donna S., Cooper, J. Mark, Millhauser, Glenn L., Houlden, Henry, Schapira, Anthony H.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2013
Teme:
Clinical/Scientific Notes
Online pristup: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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