eIF2B-related disorders: antenatal onset and involvement of multiple organs. [electronic resource]
Producer: 20040819Description: 1199-207 p. digitalISSN:- 0002-9297
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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