Human gene copy number spectra analysis in congenital heart malformations

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of C...

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Detalhes bibliográficos
Main Authors: Tomita-Mitchell, Aoy, Mahnke, Donna K., Struble, Craig A., Tuffnell, Maureen E., Stamm, Karl D., Hidestrand, Mats, Harris, Susan E., Goetsch, Mary A., Simpson, Pippa M., Bick, David P., Broeckel, Ulrich, Pelech, Andrew N., Tweddell, James S., Mitchell, Michael E.
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiological Society 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3426426/
https://ncbi.nlm.nih.gov/pubmed/22318994
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/physiolgenomics.00013.2012
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