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Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations (2012)
Journal Article
Granados-Riveron, J. T., Pope, M., Bu'Lock, F. A., Thornborough, C., Eason, J., Setchfield, K., …Brook, D. (2012). Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations. Congenital Heart Disease, 7(2), https://doi.org/10.1111/j.1747-0803.2011.00573.x

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