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In silico analysis of upstream variants in Brazilian patients with familial hypercholesterolemia

Araújo, Jéssica Nayara Góes de; Oliveira, Victor Fernandes de; Borges, Jéssica Bassani; Dagli-Hernandez, Carolina; Marçal, Elisangela da Silva Rodrigues; Freitas, Renata Caroline Costa de; Bastos, Gisele Medeiros; Gonçalves, Rodrigo Marques; Faludi, André Arpad; Jannes, Cinthia Elim; Pereira, Alexandre da Costa; Hirata, Rosario Dominguez Crespo; Hirata, Mario Hiroyuki; Luchessi, André Ducati; Silbiger, Vivian Nogueira.
Gene; 849 (146908), 2023
ABSTRACT: Familial hypercholesterolemia (FH) is a prevalent autosomal genetic disease associated with increased risk of early cardiovascular events and death due to chronic exposure to very high levels of low-density lipoprotein cholesterol (LDL-c). Pathogenic variants in the coding regions of LDLR, APOB...
Pró-Proteína Convertase 9, LDL-Colesterol/genética, Receptores de LDL/genética, Mutação, Hiperlipoproteinemia Tipo II/genética, Fenótipo, Apolipoproteínas B/genética, Nucleotídeos