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

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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Hlavní autoři: Candice K. Silversides, Anath C. Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy J. Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett
Médium: Artigo
Jazyk:angličtina
Vydáno: 2012
On-line přístup:https://doi.org/10.1371/journal.pgen.1002843
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002843&type=printable
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https://doi.org/10.1371/journal.pgen.1002843
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002843&type=printable

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