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NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

Congenital aortic valve stenosis (AVS), coarctation of the aorta (COA) and hypoplastic left heart syndrome (HLHS) are congenital cardiovascular malformations that all involve the left ventricular outflow tract (LVOT). They are presumably caused by a similar developmental mechanism involving the deve...

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Detalhes bibliográficos
Main Authors: McBride, Kim L., Riley, Maurisa F., Zender, Gloria A., Fitzgerald-Butt, Sara M., Towbin, Jeffrey A., Belmont, John W., Cole, Susan E.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2722892/
https://ncbi.nlm.nih.gov/pubmed/18593716
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn187
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