Article
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Gene - 30 Jul 2023
Borges Jéssica Bassani, Oliveira Victor Fernandes, Dagli-Hernandez Carolina, Ferreira Glaucio Monteiro, Barbosa Thais Kristini Almendros Afonso, da Silva Rodrigues Marçal Elisangela, Los Bruna, Malaquias Vanessa Barbosa, Bortolin Raul Hernandes, Freitas Renata Caroline Costa, Mori Augusto Akira, Bastos Gisele Medeiros, Gonçalves Rodrigo Marques, Araújo Daniel Branco, Zatz Henry, Bertolami Adriana, Faludi André Arpad, Bertolami Marcelo Chiara, de Moraes Rego Souza Amanda Guerra, França João Ítalo Dias, Thurow Helena Strelow, Hirata Thiago Dominguez Crespo, Nakaya Helder Takashi Imoto, Jannes Cinthia Elim, da Costa Pereira Alexandre, Silbiger Vivian Nogueira, Luchessi André Ducati, Araújo Jéssica Nayara Góes, Nakazone Marcelo Arruda, Carmo Tayanne Silva, Souza Dorotéia Rossi Silva, Moriel Patricia, Wang Jaqueline Yu Ting, Naslavsky Michel Satya, Gorjão Renata, Pithon-Curi Tania Cristina, Curi Rui, Fajardo Cristina Moreno, Wang Hui-Tzu Lin, Garófalo Adriana Regina, Cerda Alvaro, Sampaio Marcelo Ferraz, Hirata Rosario Dominguez Crespo, Hirata Mario Hiroyuki
Abstract excerpt
Familial hypercholesterolemia (FH) is a monogenic disease characterized by high plasma low-density lipoprotein cholesterol (LDL-c) levels and increased risk of premature atherosclerotic cardiovascular disease. Mutations in FH-related genes account for 40% of FH cases worldwide. In this study, we aimed to assess the pathogenic variants in FH-related genes in the Brazilian FH cohort FHBGEP using exon-targeted gene...
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