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Characterization of the Properties of a Novel Mutation in VAPB in Familial Amyotrophic Lateral Sclerosis
Following the mutation screening of genes known to cause amyotrophic lateral sclerosis (ALS) in index cases from 107 familial ALS (FALS) kindred, a point mutation was identified in vesicle-associated membrane protein-associated protein B (VAPB), or VAMP-associated protein B, causing an amino acid ch...
Autores principales: | Chen, Han-Jou, Anagnostou, Georgia, Chai, Andrea, Withers, James, Morris, Alex, Adhikaree, Jason, Pennetta, Giuseppa, de Belleroche, Jackie S. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3001007/ https://www.ncbi.nlm.nih.gov/pubmed/20940299 http://dx.doi.org/10.1074/jbc.M110.161398 |
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