Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

Foffa, Ilenia; Ait Alì, Lamia; Panesi, Paola; Mariani, Massimiliano; Festa, Pierluigi; Botto, Nicoletta; Vecoli, Cecilia; Andreassi, Maria Grazia

doi:10.1186/1471-2350-14-44

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve

Background The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1 , GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). Methods All the coding exons including adjacent intronic as well as 5 ′ …