Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations

Background: Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage analysis in large affected families. Mutations of...

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Bibliographic Details
Main Authors: Granados-Riveron, Javier T., Pope, Mark, Bu'Lock, Frances A., Thornborough, Christopher, Eason, Jacqueline, Setchfield, Kerry, Ketley, Ami, Kirk, Edwin P., Fatkin, Diane, Feneley, Michael P., Harvey, Richard P., Brook, David
Format: Article
Published: Wiley 2012
Subjects:
Congenital heart disease
Mutations
Multiple heterozygosity
Online Access:https://eprints.nottingham.ac.uk/2590/

Internet

https://eprints.nottingham.ac.uk/2590/

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