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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Public Library of Science
2013
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3545922/ https://www.ncbi.nlm.nih.gov/pubmed/23335982 http://dx.doi.org/10.1371/journal.pone.0053958 |