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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
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Original Research
Online adgang: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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