Article
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
European journal of medical genetics - 1 Jan 2000
Salazar Marleny, Consoli Federica, Villegas Victoria, Caicedo Victor, Maddaloni Valeria, Daniele Paola, Caianiello Giuseppe, Pachón Sonia, Nuñez Federico, Limongelli Giuseppe, Pacileo Giuseppe, Marino Bruno, Bernal Jaime E, De Luca Alessandro, Dallapiccola Bruno
Abstract excerpt
High prevalence of somatic mutations in the cardiac transcription factor genes NKX2.5 and GATA4 have been reported in the affected cardiovascular tissue of patients with isolated cardiac septal defects, suggesting a role of somatic mutations in the pathogenesis of these congenital heart defects (CHDs). However, all somatic mutations have been identified in DNA extracted from an archive of formalin-fixed cardiac...
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