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

Mohamed, Salah A; Aherrahrou, Zouhair; Liptau, Henrike; Erasmi, Armin W; Hagemann, Carolin; Wrobel, Sandra; Borzym, Katja; Schunkert, Heribert; Sievers, Hans H; Erdmann, Jeanette

Mohamed, Salah A; Aherrahrou, Zouhair; Liptau, Henrike; Erasmi, Armin W; Hagemann, Carolin; Wrobel, Sandra; Borzym, Katja; Schunkert, Heribert; Sievers, Hans H; Erdmann, Jeanette.

Affiliation

Mohamed SA; Department of Cardiac Surgery, University of Schleswig-Holstein, Campus Luebeck, Germany. s.mohamed@herzchirurgie-luebeck.de

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

Article in En | MEDLINE | ID: mdl-16729972

Subject(s)

Aortic Valve/abnormalities; Heart Valve Diseases/genetics; Mutation, Missense; Receptor, Notch1/genetics; Adult; Aged; Amino Acid Sequence; DNA Mutational Analysis; Female; Gene Frequency; Heart Valve Diseases/congenital; Humans; Male; Middle Aged; Molecular Sequence Data; Polymorphism, Single Nucleotide/genetics; Sequence Homology, Amino Acid

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Collection: 01-internacional Database: MEDLINE Main subject: Aortic Valve / Mutation, Missense / Receptor, Notch1 / Heart Valve Diseases Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Biochem Biophys Res Commun Year: 2006 Document type: Article Affiliation country: Germany Country of publication: United States

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