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Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions

INTRODUCTION: Bicuspid aortic valve (BAV) affects 1% of the general population. NOTCH1 was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to NOTCH1 mutations has not been estimated. AIM: The aim of our study was to provide an estimate of familial a...

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Detalles Bibliográficos
Autores principales:	Debiec, Radoslaw Marek, Hamby, Stephen E, Jones, Peter D, Safwan, Kassem, Sosin, Michael, Hetherington, Simon Lee, Sprigings, David, Sharman, David, Lee, Kelvin, Salahshouri, Pegah, Wheeldon, Nigel, Chukwuemeka, Andrew, Boutziouka, Vasiliki, Elamin, Mohamed, Coolman, Sue, Asiani, Manish, Kharodia, Shireen, Skinner, Gregory J, Samani, Nilesh J, Webb, Tom R, Bolger, Aidan P
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Congenital Heart Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9240330/ https://www.ncbi.nlm.nih.gov/pubmed/35288444 http://dx.doi.org/10.1136/heartjnl-2021-320428

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