High‐throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of the motor neurons. To date, 126 genes have been implicated in ALS. Therefore, the heterogenous genetic background of ALS requires comprehensive genetic investigative approaches. METHOD...

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Detalhes bibliográficos
Publicado no:Brain Behav
Main Authors: Tripolszki, Kornélia, Török, Dóra, Goudenège, David, Farkas, Katalin, Sulák, Adrienn, Török, Nóra, Engelhardt, József I., Klivényi, Péter, Procaccio, Vincent, Nagy, Nikoletta, Széll, Márta
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
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Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5390843/
https://ncbi.nlm.nih.gov/pubmed/28413711
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.669
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