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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Publicat a:Neurobiol Aging
Autors principals: 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
Idioma:Inglês
Publicat: 2017
Matèries:
Article
Accés en línia: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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