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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Detalles Bibliográficos
Autores principales: Tripolszki, Kornélia, Török, Dóra, Goudenège, David, Farkas, Katalin, Sulák, Adrienn, Török, Nóra, Engelhardt, József I., Klivényi, Péter, Procaccio, Vincent, Nagy, Nikoletta, Széll, Márta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390843/
https://www.ncbi.nlm.nih.gov/pubmed/28413711
http://dx.doi.org/10.1002/brb3.669

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390843/
https://www.ncbi.nlm.nih.gov/pubmed/28413711
http://dx.doi.org/10.1002/brb3.669

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