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
About this item
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Author / Creator
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 and Bolger, Aidan P
Publisher
England: BMJ Publishing Group Ltd and British Cardiovascular Society
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd and British Cardiovascular Society
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Scope and Contents
Contents
IntroductionBicuspid 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.AimThe aim of our study was to provide an estimate of familial and sporadic BAV disease attributable to NOTCH1 mutation...
Alternative Titles
Full title
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9240330
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9240330
Other Identifiers
ISSN
1355-6037
E-ISSN
1468-201X
DOI
10.1136/heartjnl-2021-320428
