A Yeast Purification System for Human Translation Initiation Factors eIF2 and eIF2Bε and Their Use in the Diagnosis of CACH/VWM Disease

Recessive inherited mutations in any of five subunits of the general protein synthesis factor eIF2B are responsible for a white mater neurodegenerative disease with a large clinical spectrum. The classical form is called Childhood Ataxia with CNS hypomyelination (CACH) or Vanishing White Matter Leuk...

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Dades bibliogràfiques
Autors principals: de Almeida, Rogerio A., Fogli, Anne, Gaillard, Marina, Scheper, Gert C., Boesflug-Tanguy, Odile, Pavitt, Graham D.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3545922/
https://ncbi.nlm.nih.gov/pubmed/23335982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0053958
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