Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve

Mohamed, S. A., Aherrahrou, Z., Liptau, H., Erasmi, A. W., Hagemann, C., Wrobel, S., Borzym, K., Schunkert, H., Sievers, H. H., Erdmann, J.

Biochem Biophys Res Commun. 2006 Jul 14;345(4):1460-5. Epub 2006 May 15.

http://www.ncbi.nlm.nih.gov/pubmed/16729972