التفاصيل البيبلوغرافية
| العنوان: |
An mtDNA Mutation in the Initiation Codon of the Cytochrome C Oxidase Subunit II Gene Results in Lower Levels of the Protein and a Mitochondrial Encephalomyopathy. |
| المؤلفون: |
Clark, Kim M., Taylor, Robert W., Johnson, Margaret A., Chinnery, Patrick F., Chrzanowska-Lightowlers, Zofia M.A., Andrews, Richard M., Nelson, Isobel P., Wood, Nicholas W., Lamont, Phillipa J., Hanna, Michael G., Lightowlers, Robert N., Turnbull, Douglass M. |
| المصدر: |
American Journal of Human Genetics. May99, Vol. 64 Issue 5. 4 Diagrams, 2 Charts, 4 Graphs. |
| مصطلحات موضوعية: |
*MITOCHONDRIAL DNA, *CYTOCHROMES, *STRUCTURE-activity relationships |
| مستخلص: |
Examines the mitochondrial cytopathies mutation with codon of the cytochrome C oxidase subunit II (COX II) gene on the family with an mtDNA mutation. Impact of the transition on the mitochondrial genome; Effect of mutation on the COX II activity; Assessment on the variability in symptoms of the family with mtDNA mutations. |
| قاعدة البيانات: |
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