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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| 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 |