Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

OBJECTIVE: Despite the enormous advancements made in deciphering the genetic architecture of Parkinson disease (PD), the majority of PD is idiopathic, with single gene mutations explaining only a small proportion of the cases. METHODS: In this study, we clinically evaluated 2 unrelated Spanish famil...

Descripción completa

Detalles Bibliográficos
Autores principales: Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540655/
https://www.ncbi.nlm.nih.gov/pubmed/28808687
http://dx.doi.org/10.1212/NXG.0000000000000177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540655/
https://www.ncbi.nlm.nih.gov/pubmed/28808687
http://dx.doi.org/10.1212/NXG.0000000000000177

Ejemplares similares