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 h...

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Detalles Bibliográficos
Autores principales: Guber, Robert D., Schindler, Alice B., Budron, Maher S., Chen, Ke‐lian, Li, Yuebing, Fischbeck, Kenneth H., Grunseich, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846449/
https://www.ncbi.nlm.nih.gov/pubmed/29560381
http://dx.doi.org/10.1002/acn3.515

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846449/
https://www.ncbi.nlm.nih.gov/pubmed/29560381
http://dx.doi.org/10.1002/acn3.515

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