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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Detalhes bibliográficos
Main Authors: Chen, Han-Jou, Anagnostou, Georgia, Chai, Andrea, Withers, James, Morris, Alex, Adhikaree, Jason, Pennetta, Giuseppa, de Belleroche, Jackie S.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3001007/
https://ncbi.nlm.nih.gov/pubmed/20940299
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.161398
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