Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.

Autor: Rocha Ferreira J; National Institute of Cardiology, Rio de Janeiro, RJ, 22240-002, Brazil., Passarelli Pereira J; National Institute of Cardiology, Rio de Janeiro, RJ, 22240-002, Brazil., Arpini Botelho AP; National Institute of Cardiology, Rio de Janeiro, RJ, 22240-002, Brazil., do Nascimento Aprijo D; National Institute of Cardiology, Rio de Janeiro, RJ, 22240-002, Brazil., Machado Melo M; National Institute of Cardiology, Rio de Janeiro, RJ, 22240-002, Brazil., Cramer Veiga Rey H; National Institute of Cardiology, Rio de Janeiro, RJ, 22240-002, Brazil., Monteiro Dias G; Cellular and Tissue Biology Laboratory, State University of Norte Fluminense Darcy Ribeiro, Campos dos Goytacazes, RJ, 28013-602, Brazil. glauber@uenf.br.

Publikováno v: Scientific reports [Sci Rep] 2024 Nov 08; Vol. 14 (1), pp. 27172. Date of Electronic Publication: 2024 Nov 08.