Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system. [electronic resource]
Producer: 20060705Description: 1091-7 p. digitalISSN:- 0141-8955
- ATPases Associated with Diverse Cellular Activities
- Cation Transport Proteins -- genetics
- Cell Nucleus -- metabolism
- DNA Mutational Analysis
- DNA, Complementary -- metabolism
- Electron Transport Complex IV -- genetics
- Expressed Sequence Tags
- Fibroblasts -- metabolism
- Heterozygote
- Humans
- Metalloendopeptidases -- genetics
- Mitochondrial Diseases -- genetics
- Mitochondrial Proteins -- genetics
- Mutation
- Nuclear Proteins -- genetics
- Open Reading Frames
- Oxygen -- metabolism
- Phosphorylation
- Polymorphism, Genetic
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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