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Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformatio...

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Detalles Bibliográficos
Autores principales:	Guida, Valentina, Lepri, Francesca, Vijzelaar, Raymon, De Zorzi, Andrea, Versacci, Paolo, Digilio, Maria Cristina, Marino, Bruno, De Luca, Alessandro, Dallapiccola, Bruno
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	IOS Press 2010
Materias:	Other
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833239/ https://www.ncbi.nlm.nih.gov/pubmed/20592452 http://dx.doi.org/10.3233/DMA-2010-0703

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