Toward genotype phenotype correlations in GFM1 mutations. [electronic resource]
Producer: 20120713Description: 242-7 p. digitalISSN:- 1872-8278
- Amino Acid Sequence
- Amino Acid Substitution
- Brain -- diagnostic imaging
- Brain Damage, Chronic -- genetics
- Female
- Genetic Association Studies
- Humans
- Infant
- Infant, Newborn
- Liver Failure -- genetics
- Magnetic Resonance Imaging
- Male
- Mitochondrial Diseases -- genetics
- Mitochondrial Proteins -- genetics
- Models, Molecular
- Molecular Dynamics Simulation
- Molecular Sequence Data
- Mutant Proteins -- genetics
- Mutation, Missense
- Peptide Elongation Factor G -- genetics
- Pregnancy
- Radiography
- Sequence Analysis, DNA
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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