Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. [electronic resource]
Producer: 20131105Description: 471-81 p. digitalISSN:- 1537-6605
- Acidosis, Lactic -- complications
- Base Sequence
- Child
- Child, Preschool
- Chromosome Segregation -- genetics
- DNA, Mitochondrial -- genetics
- Electron Transport -- genetics
- F-Box Proteins -- chemistry
- Female
- Fibroblasts -- metabolism
- Gene Dosage -- genetics
- Genes, Recessive -- genetics
- Genetic Predisposition to Disease
- Humans
- Infant
- Infant, Newborn
- Male
- Mitochondrial Encephalomyopathies -- complications
- Molecular Sequence Data
- Muscle, Skeletal -- pathology
- Mutation -- genetics
- Oxidative Phosphorylation
- Pedigree
- Protein Transport
- Ubiquitin-Protein Ligases -- chemistry
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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