A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. [electronic resource]
Producer: 20170210Description: 342-6 p. digitalISSN:- 1878-0849
- Child
- DNA, Mitochondrial -- genetics
- Exome -- genetics
- F-Box Proteins -- genetics
- Fibroblasts -- metabolism
- Humans
- Male
- Metabolism, Inborn Errors -- genetics
- Mitochondrial Encephalomyopathies -- epidemiology
- Muscle, Skeletal -- pathology
- Mutation, Missense
- Norway -- epidemiology
- Ubiquitin-Protein Ligases -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article
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