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Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China
BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by predominant impairment of upper and lower motor neurons. Over 50 TARDBP mutations have been reported in both familial (FALS) and sporadic ALS (SALS). Some mutations in TARDBP, e.g. A382T and G...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356425/ https://www.ncbi.nlm.nih.gov/pubmed/35932023 http://dx.doi.org/10.1186/s12920-022-01327-4 |