TY  - GEN
AU  - Horzinski,Laetitia
AU  - Huyghe,Aurélia
AU  - Cardoso,Marie-Céleste
AU  - Gonthier,Céline
AU  - Ouchchane,Lemlih
AU  - Schiffmann,Raphael
AU  - Blanc,Pierre
AU  - Boespflug-Tanguy,Odile
AU  - Fogli,Anne
TI  - Eukaryotic initiation factor 2B (eIF2B) GEF activity as a diagnostic tool for EIF2B-related disorders
SN  - 1932-6203
PY  - 2010///0317
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Aging
KW  - pathology
KW  - Case-Control Studies
KW  - Child
KW  - Child, Preschool
KW  - Eukaryotic Initiation Factor-2B
KW  - genetics
KW  - Guanine Nucleotide Exchange Factors
KW  - Hereditary Central Nervous System Demyelinating Diseases
KW  - diagnosis
KW  - Humans
KW  - Infant
KW  - Lymphocytes
KW  - metabolism
KW  - Middle Aged
KW  - Mutation
KW  - ROC Curve
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1371/journal.pone.0008318
ER  -