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In vivo evidence of pathogenicity of VPS35 mutations in the Drosophila

Mutations of VPS35, a component of the retromer complex have been associated with late onset familial Parkinson’s disease. The D620N mutation in VPS35 appears to be most prevalent, however, P316S was found in two cases within the same family and a control, whereas L774M was identified in 6 cases and...

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Detalles Bibliográficos
Autores principales: Wang, Hua-shan, Toh, Joanne, Ho, Patrick, Tio, Murni, Zhao, Yi, Tan, Eng-King
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4193144/
https://www.ncbi.nlm.nih.gov/pubmed/25288323
http://dx.doi.org/10.1186/s13041-014-0073-y