Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson’s disease

SNCA missense mutations are a rare cause of autosomal dominant Parkinson’s disease (PD). To date, six missense mutations in SNCA have been nominated as causal. Here, we assess the frequency of these six mutations in public population databases and PD case-control datasets in order to determine their...

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Veröffentlicht in:Neurobiol Aging
Hauptverfasser: Blauwendraat, Cornelis, Kia, Demis A., Pihlstrom, Lasse, Gan-Or, Ziv, Lesage, Suzanne, Gibbs, J. Raphael, Ding, Jinhui, Alcalay, Roy N., Hassin-Baer, Sharon, Pittman, Alan M., Brooks, Janet, Edsall, Connor, Chung, Sun Ju, Goldwurm, Stefano, Toft, Mathias, Schulte, Claudia, Hernandez, Dena, Singleton, Andrew B., Nalls, Mike A., Brice, Alexis, Scholz, Sonja W., Wood, Nicholas W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2017
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5823280/
https://ncbi.nlm.nih.gov/pubmed/29398121
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2017.12.012
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