Toward a mtDNA Locus-Specific Mutation Database Using the LOVD Platform

The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic....

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Elson, Joanna L., Sweeney, Mary G., Procaccio, Vincent, Yarham, John W., Salas, Antonio, Kong, Qing-Peng, van der Westhuizen, Francois H., Pitceathly, Robert D.S., Thorburn, David R., Lott, Marie T., Wallace, Douglas C., Taylor, Robert W., McFarland, Robert
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4394605/
https://ncbi.nlm.nih.gov/pubmed/22581690
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22118
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