TY  - GEN
AU  - Fogli,Anne
AU  - Schiffmann,Raphael
AU  - Hugendubler,Lynne
AU  - Combes,Patricia
AU  - Bertini,Enrico
AU  - Rodriguez,Diana
AU  - Kimball,Scot R
AU  - Boespflug-Tanguy,Odile
TI  - Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients
SN  - 1018-4813
PY  - 2005///0216
KW  - Adolescent
KW  - Brain Diseases
KW  - genetics
KW  - Cell Line, Transformed
KW  - Child
KW  - Child, Preschool
KW  - Eukaryotic Initiation Factor-2B
KW  - Female
KW  - Hereditary Central Nervous System Demyelinating Diseases
KW  - diagnosis
KW  - Humans
KW  - Infant
KW  - Lymphocytes
KW  - metabolism
KW  - Male
KW  - Mutation
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1038/sj.ejhg.5201189
ER  -