Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis
Debiec, Radoslaw, Hamby, Stephen E., Jones, Peter D., Coolman, Sue, Asiani, Manish, Kharodia, Shireen, Skinner, Gregory J., Samani, Nilesh J., Webb, Tom R., Bolger, Aidan
Published in Molecular genetics & genomic medicine (01.10.2020)
Published in Molecular genetics & genomic medicine (01.10.2020)
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Journal Article
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions
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
Published in Heart (British Cardiac Society) (01.07.2022)
Published in Heart (British Cardiac Society) (01.07.2022)
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Journal Article