Article
Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population.
Genetic testing and molecular biomarkers - 1 Oct 2015
Ketharnathan Sarada, Koshy Teena, Sethuratnam Rajan, Paul Solomon, Venkatesan Vettriselvi
Abstract excerpt
BACKGROUND AND AIM: Mutations in the NKX2.5 gene, a cardiac transcription factor, have been implicated in various types of congenital heart defects (CHD) and it is known that optimal expression levels of this gene are crucial for proper cardiogenesis. However, most of the mutations have been identified in cases of syndromic CHD, and the functional significance of other mutations in this gene has not been studied....
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