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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Publicado no:Neurobiol Aging
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha: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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