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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...

詳細記述

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書誌詳細
出版年:Brain Behav
主要な著者: Tripolszki, Kornélia, Török, Dóra, Goudenège, David, Farkas, Katalin, Sulák, Adrienn, Török, Nóra, Engelhardt, József I., Klivényi, Péter, Procaccio, Vincent, Nagy, Nikoletta, Széll, Márta
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
オンライン・アクセス: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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