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Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients
BACKGROUND: Eukaryotic translation initiation factor 2B (eIF2B), a guanine nucleotide exchange factor (GEF) and a key regulator of translation initiation under normal and stress conditions, causes an autosomal recessive leukodystrophy of a wide clinical spectrum. EBV-immortalised lymphocytes (EIL) f...
Autores principales: | Horzinski, Laetitia, Kantor, Liraz, Huyghe, Aurélia, Schiffmann, Raphael, Elroy-Stein, Orna, Boespflug-Tanguy, Odile, Fogli, Anne |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967530/ https://www.ncbi.nlm.nih.gov/pubmed/20958979 http://dx.doi.org/10.1186/1471-2377-10-94 |
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