A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. [electronic resource]
Producer: 20130705Description: 656-67 p. digitalISSN:- 1460-2083
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Animals
- Ataxia -- genetics
- Base Sequence
- Cells, Cultured
- Child
- Consanguinity
- Cytochrome-c Oxidase Deficiency -- genetics
- DNA Mutational Analysis
- Electron Transport Complex IV -- metabolism
- Gene Expression
- Humans
- Ion Channels -- genetics
- Lactic Acid -- blood
- Male
- Membrane Proteins -- genetics
- Mice
- Mitochondria -- enzymology
- Mitochondrial Proteins -- genetics
- Molecular Sequence Data
- Muscle Hypotonia -- genetics
- Mutation, Missense
- Protein Multimerization
- Saccharomyces cerevisiae Proteins -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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