Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country

Autor: Luiz Vicente Ribeiro Ferreira da Silva Filho, Paulo José Cauduro Maróstica, Rodrigo Abensur Athanazio, Francisco José Caldeira Reis, Neiva Damaceno, Angela Tavares Paes, Adilson Yuuji Hira, David Schlesinger, Fernando Kok, Margarida D. Amaral, Mara Lícia Machado Antunes, Lilian Cristina Ferreira Andries, Virginia Auxiliadora Freitas de Castro, Fabíola Villac Adde, Maria Fernanda Botelho Hernandez Perez, Vera Maria Dantas, Luciana de Freitas Velloso Monte, Adriana Goya, Samia Rached, Lusmaia Damaceno Camargo Costa, Lorenna Junqueira Almeida Prado, Elizabet Vilar Guimarães, Ana Cristina de Carvalho Fernandez Fonseca, Marina Pires Nishi, Carlos Antônio Riedi, Nelson Augusto Rosario Filho, Mariane Gonçalves Martynychen Canan, Maria Inez Machado Fernandes, Albin Eugenio Augustin, Rosângela Villela Garcia, Maria Margarete da Silva Zembrzuski, Kátia Izabel de Oliveira, Anneliese Hoffmann, Cláudio Ricachinevsky, Paulo de Tarso Roth Dalcin, Bruna Ziegler, Daniela de Souza Paiva Borgli, Daniele Menezes Torres Ferrao, Elizabeth Passos Simoes da Silva, Maria Angelica Santana, Maria Amenaide Carvalho Alves de Sousa, Claudia de Castro e Silva, Evalto Monte de Araujo Filho, Tiago Neves Veras, Noberto Ludwig Neto, Luiz Roberto Agea Cutolo, Alberto Andrade Vergara, Suzana Fonseca Oliveira Melo, Maria do Espírito Santo Almeida Moreira, Roberta de Cássia Nunes Cruz Melotti, Fernanda Barbosa dos Santos Malini, Marcelo Bicalho de Fuccio, Bruno Porto Pessoa, Concetta Esposito, Paulo Cesar Kussek, Glaunir Maria Foletto, Leonardo Araujo Pinto, Matias Epifanio, Marcelo Tadday Rodrigues, Marta Cristina Duarte, Daniela Gois Meneses, Valéria de Carvalho Martins, Sônia Elenita Lopes Valente, Arlan de Azevedo Ferreira, Constantino Giovanni Braga Cartaxo, Denise Maria Costa Haidar, Mônica de Cássia Firmida, Marcos César Santos de Castro, Edna Lucia Santos de Souza, Lais Ribeiro Mota, Katharina Vidal de Negreiros Moura, Joaquim Carlos Rodrigues, Cleyde Myriam Aversa Nakaie, Tânia Wrobel Folescu, Izabela Sad, Murilo Carlos Amorim de Britto, Carlos Henrique Medeiros Castelletti, Cláudia Mello Gonçalves, Lucia Muramatu, Gilberto Bueno Fischer, Giesela Fleischer Ferrari, Luciana Oliveira Silvano Tostes, Carmen Silvia Bertuzzo, Fernando Augusto de Lima Marson, Sonia Mayumi Chiba, Marcela Duarte De Sillos

Publikováno v: Journal of Cystic Fibrosis

Background The Brazilian population has a tri-hybrid composition with a high degree of ethnic admixture. We hypothesized that Brazilian individuals with CF from different Brazilian regions have a specific distribution of CFTR variants. Methods Indivi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf9702131a0c0b3d3a03a6f7fcb7a6de
https://doi.org/10.1016/j.jcf.2020.08.007