Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

Structural genetic changes, especially copy number variants (CNVs), represent a major source of genetic variation contributing to human disease. Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease, but to date little is known about the role of CNVs in the etiology...

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Detalles Bibliográficos
Autores principales: Silversides, Candice K., Lionel, Anath C., Costain, Gregory, Merico, Daniele, Migita, Ohsuke, Liu, Ben, Yuen, Tracy, Rickaby, Jessica, Thiruvahindrapuram, Bhooma, Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3415418/
https://www.ncbi.nlm.nih.gov/pubmed/22912587
http://dx.doi.org/10.1371/journal.pgen.1002843

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