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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...

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Detalles Bibliográficos
Autores principales: Chen, Han-Jou, Anagnostou, Georgia, Chai, Andrea, Withers, James, Morris, Alex, Adhikaree, Jason, Pennetta, Giuseppa, de Belleroche, Jackie S.
Formato: Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2010
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