eIF2B-related disorders: antenatal onset and involvement of multiple organs.
van der Knaap, Marjo S
eIF2B-related disorders: antenatal onset and involvement of multiple organs. [electronic resource] - American journal of human genetics Nov 2003 - 1199-207 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/379524 doi
Abnormalities, Multiple--genetics
Age of Onset
Amino Acid Sequence
Animals
Brain--abnormalities
Brain Diseases--complications
DNA Mutational Analysis
Eukaryotic Initiation Factor-2B--chemistry
Female
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation--genetics
Organ Specificity
Phenotype
eIF2B-related disorders: antenatal onset and involvement of multiple organs. [electronic resource] - American journal of human genetics Nov 2003 - 1199-207 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/379524 doi
Abnormalities, Multiple--genetics
Age of Onset
Amino Acid Sequence
Animals
Brain--abnormalities
Brain Diseases--complications
DNA Mutational Analysis
Eukaryotic Initiation Factor-2B--chemistry
Female
Genotype
Humans
Infant
Infant, Newborn
Male
Mutation--genetics
Organ Specificity
Phenotype