Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients.
Fogli, Anne
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
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