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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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Detalhes bibliográficos
Main Authors: Zaragoza, Michael V., Fass, Joseph, Diegoli, Marta, Lin, Dawei, Arbustini, Eloisa
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2924892/
https://ncbi.nlm.nih.gov/pubmed/20808834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0012295
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