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

Authors: J. Dudra, J. Lindner, I. Vaněk, Jana Šímová, Ivan Mazura, I. Miler, J. Čiháková, P. Čapek, J. Belák
Publication year: 2009
Publication type: Článek v odborném periodiku
Periodical: International Journal of Angiology
Projects: Centre of Biomedical Informatics
Bibliographic citation: 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

Abstract

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.