Litcius/Paper detail

Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing

Jéssica Bassani Borges, Victor Fernandes de Oliveira, Carolina Dagli-Hernandez, Gláucio Monteiro Ferreira, Thais Kristini Almendros Barbosa, Elisangela da Silva Rodrigues Marçal, Bruna Los, Vanessa Barbosa Malaquias, Raul Hernandes Bortolin, Renata Caroline Costa de Freitas, Augusto Akira Mori, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Daniel Branco de Araújo, Henry Paulo Zatz, Adriana Bertolami, André Árpád Faludi, Marcelo Chiara Bertolami, Amanda Guerra de Moraes Rego Souza, João Ítalo Dias França, Helena Strelow Thurow, Thiago Dominguez Crespo Hirata, Helder I. Nakaya, Cinthia Elim Jannes, Alexandre Pereira, Vivian Nogueira Silbiger, André Ducati Luchessi, Jéssica Nayara Góes de Araújo, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Patrícia Moriel, Jaqueline Yu Ting Wang, Michel Satya Naslavsky, Renata Gorjão, Tânia Cristina Pithon‐Curi, Rui Curi, Cristina Moreno Fajardo, Hui Tzu Lin‐Wang, Adriana Regina Garófalo, Álvaro Cerda, Marcelo Ferraz Sampaio, Rosário Dominguez Crespo Hirata, Mário Hiroyuki Hirata

2023Gene10 citationsDOI

Topics & Concepts

BiologyGeneticsFamilial hypercholesterolemiaExonPCSK9GeneMedical geneticsMissense mutationGenomicsComputational biologyBioinformaticsGenomeMutationLDL receptorEndocrinologyLipoproteinCholesterolLipoproteins and Cardiovascular HealthGenetic Associations and EpidemiologyGenetic factors in colorectal cancer