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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Bibliografiska uppgifter
Huvudupphovsmän: Chen, Han-Jou, Anagnostou, Georgia, Chai, Andrea, Withers, James, Morris, Alex, Adhikaree, Jason, Pennetta, Giuseppa, de Belleroche, Jackie S.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Biochemistry and Molecular Biology 2010
Ämnen:
Molecular Bases of Disease
Länkar: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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