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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Autores principales: Rogerio A de Almeida, Anne Fogli, Marina Gaillard, Gert C Scheper, Odile Boesflug-Tanguy, Graham D Pavitt
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2013
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Acceso en línea:https://doaj.org/article/ae292ce4100b43458a091927160c0aa8
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