Article
Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.
Biochemical and biophysical research communications - 14 Jul 2006
Mohamed Salah A, Aherrahrou Zouhair, Liptau Henrike, Erasmi Armin W, Hagemann Carolin, Wrobel Sandra, Borzym Katja, Schunkert Heribert, Sievers Hans H, Erdmann Jeanette
Abstract excerpt
The bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, occurring in 1-2% of the population. In a recent report, mutations in NOTCH1 a signaling and transcriptional regulator have been shown to cause BAV in two families. This study provides data on systematic sequencing in search for novel mutations in NOTCH1 gene in a large sample BAV. For the first time, we report results of a...
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