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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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書誌詳細
主要な著者: Chen, Han-Jou, Anagnostou, Georgia, Chai, Andrea, Withers, James, Morris, Alex, Adhikaree, Jason, Pennetta, Giuseppa, de Belleroche, Jackie S.
フォーマット: Artigo
言語:Inglês
出版事項: American Society for Biochemistry and Molecular Biology 2010
主題:
オンライン・アクセス: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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