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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...

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Bibliografske podrobnosti
izdano v:Neurol Genet
Main Authors: Ruiz-Martínez, Javier, Azcona, Luis J., Bergareche, Alberto, Martí-Massó, Jose F., Paisán-Ruiz, Coro
Format: Artigo
Jezik:Inglês
Izdano: Wolters Kluwer 2017
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5540655/
https://ncbi.nlm.nih.gov/pubmed/28808687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000177
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