Mitochondrial DNA Variant Discovery and Evaluation in Human Cardiomyopathies through Next-Generation Sequencing

Mutations in mitochondrial DNA (mtDNA) may cause maternally-inherited cardiomyopathy and heart failure. In homoplasmy all mtDNA copies contain the mutation. In heteroplasmy there is a mixture of normal and mutant copies of mtDNA. The clinical phenotype of an affected individual depends on the type o...

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Detalles Bibliográficos
Autores principales: Zaragoza, Michael V., Fass, Joseph, Diegoli, Marta, Lin, Dawei, Arbustini, Eloisa
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2924892/
https://www.ncbi.nlm.nih.gov/pubmed/20808834
http://dx.doi.org/10.1371/journal.pone.0012295

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