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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...

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Detalles Bibliográficos
Autores principales:	Chadha, Radhika, Shah, Ritika, Mani, Shalini
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Biomedical Informatics 2014
Materias:	Hypothesis
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

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