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Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease.

Left-ventricular outflow tract obstructions (LVOTO) encompass a wide spectrum of phenotypically heterogeneous heart malformations which frequently cluster in families. We performed family based whole-exome and targeted re-sequencing on 182 individuals from 51 families with multiple affected members....

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Principais autores: Christoph Preuss, Melanie Capredon, Florian Wünnemann, Philippe Chetaille, Andrea Prince, Beatrice Godard, Severine Leclerc, Nara Sobreira, Hua Ling, Philip Awadalla, Maryse Thibeault, Paul Khairy, MIBAVA Leducq consortium, Mark E Samuels, Gregor Andelfinger
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science (PLoS) 2016-10-01
Serier:PLoS Genetics
Online adgang:http://europepmc.org/articles/PMC5070860?pdf=render
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