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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Detaylı Bibliyografya
Yayımlandı:Brain Behav
Asıl Yazarlar: Tripolszki, Kornélia, Török, Dóra, Goudenège, David, Farkas, Katalin, Sulák, Adrienn, Török, Nóra, Engelhardt, József I., Klivényi, Péter, Procaccio, Vincent, Nagy, Nikoletta, Széll, Márta
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: John Wiley and Sons Inc. 2017
Konular:
Original Research
Online Erişim: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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