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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...
Tallennettuna:
| Julkaisussa: | Brain Behav |
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| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
John Wiley and Sons Inc.
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6160657/ https://ncbi.nlm.nih.gov/pubmed/30052327 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.1066 |
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