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Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases
A large number of mutations have been reported in SCO2 (synthesis of cytochrome c oxidase) gene in association with COX deficiency reported in different diseases such as cardioencephalomyopathy, cardiomyopathy and Leigh syndrome. However, very few of these mutations have been functionally analyzed.S...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Biomedical Informatics
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110422/ https://www.ncbi.nlm.nih.gov/pubmed/25097374 http://dx.doi.org/10.6026/97320630010329 |