Nucleocytoplasmic transport defect in a North American patient with ALS8
نویسندگان
چکیده
منابع مشابه
Nucleocytoplasmic transport defect in a North American patient with ALS8
Amyotrophic lateral sclerosis 8 (ALS8) is a rare progressive neurodegenerative disease resulting from mutation in the gene for vesicle-associated membrane protein-associated protein B. We evaluated a North American patient using exome sequencing, and identified a P56S mutation. The disease protein had similar subcellular localization and expression levels in the patient and control fibroblasts....
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ژورنال
عنوان ژورنال: Annals of Clinical and Translational Neurology
سال: 2018
ISSN: 2328-9503
DOI: 10.1002/acn3.515