Article
Mutations in NOTCH1 cause aortic valve disease.
Nature - 8 Sept 2005
Garg Vidu, Muth Alecia N, Ransom Joshua F, Schluterman Marie K, Barnes Robert, King Isabelle N, Grossfeld Paul D, Srivastava Deepak
Abstract excerpt
Calcification of the aortic valve is the third leading cause of heart disease in adults. The incidence increases with age, and it is often associated with a bicuspid aortic valve present in 1-2% of the population. Despite the frequency, neither the mechanisms of valve calcification nor the developmental origin of a two, rather than three, leaflet aortic valve is known. Here, we show that mutations in the...
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