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Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

Mutations in ALS2, carrying three putative guanine exchange factor (GEF) domains, are causative for a juvenile, autosomal recessive form of amyotrophic lateral sclerosis (ALS), primary lateral sclerosis, and infantile-ascending hereditary spastic paralysis. Endogenous ALS2 is shown here to be enrich...

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Главные авторы: Yamanaka, Koji, Vande Velde, Christine, Eymard-Pierre, Eleonore, Bertini, Enrico, Boespflug-Tanguy, Odile, Cleveland, Don W.
Формат: Artigo
Язык:Inglês
Опубликовано: National Academy of Sciences 2003
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC307689/
https://ncbi.nlm.nih.gov/pubmed/14668431
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2635267100
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