Log in to save to my catalogue

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313514454

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

About this item

Full title

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

Publisher

United States: Public Library of Science

Journal title

PLoS genetics, 2012-08, Vol.8 (8), p.e1002843

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

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 of TOF. Using high-resolution genome-wide microarr...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1313514454

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1313514454

Other Identifiers

ISSN

1553-7404,1553-7390

E-ISSN

1553-7404

DOI

10.1371/journal.pgen.1002843

How to access this item