Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients. [electronic resource]
- European journal of human genetics : EJHG Jul 2004
- 561-6 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
1018-4813
10.1038/sj.ejhg.5201189 doi
Adolescent Brain Diseases--genetics Cell Line, Transformed Child Child, Preschool Eukaryotic Initiation Factor-2B--genetics Female Hereditary Central Nervous System Demyelinating Diseases--diagnosis Humans Infant Lymphocytes--metabolism Male Mutation--genetics