TY  - GEN
AU  - van der Knaap,Marjo S
AU  - van Berkel,Carola G M
AU  - Herms,Jochen
AU  - van Coster,Rudy
AU  - Baethmann,Martina
AU  - Naidu,Sakkubai
AU  - Boltshauser,Eugen
AU  - Willemsen,Michèl A A P
AU  - Plecko,Barbara
AU  - Hoffmann,Georg F
AU  - Proud,Christopher G
AU  - Scheper,Gert C
AU  - Pronk,Jan C
TI  - eIF2B-related disorders: antenatal onset and involvement of multiple organs
SN  - 0002-9297
PY  - 2004///0819
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Age of Onset
KW  - Amino Acid Sequence
KW  - Animals
KW  - Brain
KW  - abnormalities
KW  - Brain Diseases
KW  - complications
KW  - DNA Mutational Analysis
KW  - Eukaryotic Initiation Factor-2B
KW  - chemistry
KW  - Female
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Organ Specificity
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/379524
ER  -