New Fibrillin Gene Mutation - Possible Cause of Ascending Aortic Dilation in Patients with Aortic Valve Disease: Preliminary Results

Autoři: Jana Šímová
Ivan Mazura
Rok vydání: 2009
Typ publikace: Článek v odborném periodiku
Periodikum: International Journal of Angiology
Projekty: Centrum biomedicínské informatiky (CBI)
Bibliografická citace: DUDRA, J., LINDNER, J., VANĚK, I., ŠÍMOVÁ, Jana, MAZURA, Ivan, MILER, I., ČIHÁKOVÁ, J., ČAPEK, P., BELÁK, J. New Fibrillin Gene Mutation - Possible Cause of Ascending Aortic Dilation in Patients with Aortic Valve Disease: Preliminary Results. International Journal of Angiology. 2009, 18(2), 99-102. ISSN 1061-1711. E-ISSN 1615-5939.
ID: 333476

Abstrakt

Genetic analysis in Ascending Aortic Dilatation Patiens was performed. New mutation in fibrilin gene was indentified. Influence of this mutation on patient phenotype picture was discussed.