Missense Mutations and Gene Interruption in <i>PROSIT240</i> , a Novel <i>TRAP240</i> -Like Gene, in Patients With Congenital Heart Defect (Transposition of the Great Arteries)

Abstract excerpt

BACKGROUND: Congenital heart disease represents the most common severe birth defect, affecting 0.7% to 1% of all neonates, among whom 5% to 7% display transposition of the great arteries (TGA). TGA represents a septation defect of the common outflow tract of the heart, manifesting around the fifth week during embryonic development. Despite its high prevalence, very little is known about the pathogenesis of this...

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