Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.
Orphanet Journal Of Rare Diseases
Campens, Laurence L; Callewaert, Bert B; MuiƱo Mosquera, Laura L; Renard, Marjolijn M; Symoens, Sofie S; De Paepe, Anne A; Coucke, Paul P; De Backer, Julie J
Publication Date: 2015-02-03
Variant appearance in text: FBN1: 3748G>T; Asp1250Tyr