Article
GATA4 mutations in 357 unrelated patients with congenital heart malformation.
Genetic testing and molecular biomarkers - 1 Dec 2010
Butler Tanya L, Esposito Giorgia, Blue Gillian M, Cole Andrew D, Costa Mauro W, Waddell Leigh B, Walizada Gina, Sholler Gary F, Kirk Edwin P, Feneley Michael, Harvey Richard P, Winlaw David S
Abstract excerpt
Congenital heart disease (CHD) represents one of the most common birth defects, but the genetic causes remain largely unknown. Mutations in GATA4, encoding a zinc finger transcription factor with a pivotal role in heart development, have been associated with CHD in several familial cases and a small subset of sporadic patients. To estimate the pathogenetic role of GATA4 in CHD, we screened for mutations in 357...
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