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Mitochondrial Disease Genetic Diagnostics: Optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome

Discovering causative genetic variants in individual cases of suspected mitochondrial disease requires interrogation of both the mitochondrial (mtDNA) and nuclear genomes. Whole-exome sequencing can support simultaneous dual-genome analysis, although currently available capture kits do not target th...

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Detalhes bibliográficos
Main Authors: Falk, Marni J., Pierce, Eric A., Consugar, Mark, Xie, Michael H., Guadalupe, Moraima, Hardy, Owen, Rappaport, Eric F., Wallace, Douglas C., LeProust, Emily, Gai, Xiaowu
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3923327/
https://ncbi.nlm.nih.gov/pubmed/23272691
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