A novel SETX gene mutation associated with Juvenile amyotrophic lateral sclerosis

OBJECTS: This study aimed to report a novel point mutation associated with juvenile amyotrophic lateral sclerosis (JALS) in a Chinese Han family. METHODS: Detailed clinical assessment was applied to two patients, including proband (II‐2) and his mother (I‐2). Next‐generation sequencing (NGS), also k...

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Detalles Bibliográficos
Autores principales: Ma, Limin, Shi, Yingying, Chen, Zhongcan, Li, Shujian, Zhang, Jiewen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160657/
https://www.ncbi.nlm.nih.gov/pubmed/30052327
http://dx.doi.org/10.1002/brb3.1066

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6160657/
https://www.ncbi.nlm.nih.gov/pubmed/30052327
http://dx.doi.org/10.1002/brb3.1066

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