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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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Veröffentlicht in:PLoS Genet
Hauptverfasser: Preuss, Christoph, Capredon, Melanie, Wünnemann, Florian, Chetaille, Philippe, Prince, Andrea, Godard, Beatrice, Leclerc, Severine, Sobreira, Nara, Ling, Hua, Awadalla, Philip, Thibeault, Maryse, Khairy, Paul, Samuels, Mark E., Andelfinger, Gregor
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2016
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070860/
https://ncbi.nlm.nih.gov/pubmed/27760138
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1006335
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