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

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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Main Authors: Asiani, M. (Author), Bolger, A.P (Author), Boutziouka, V. (Author), Chukwuemeka, A. (Author), Coolman, S. (Author), Debiec, R.M (Author), Elamin, M. (Author), Hamby, S.E (Author), Hetherington, S.L (Author), Jones, P.D (Author), Kharodia, S. (Author), Lee, K. (Author), Safwan, K. (Author), Salahshouri, P. (Author), Samani, N.J (Author), Sharman, D. (Author), Skinner, G.J (Author), Sosin, M. (Author), Sprigings, D. (Author), Webb, T.R (Author), Wheeldon, N. (Author)
Format: Article
Language:English
Published: NLM (Medline) 2022
Subjects:
aortic valve
Aortic Valve
bicuspid aortic valve
Bicuspid Aortic Valve Disease
genetics
Heart Valve Diseases
human
Humans
mutation
Mutation
NOTCH1 protein, human
Notch1 receptor
pedigree
Pedigree
Receptor, Notch1
valvular heart disease
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