Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country
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Published:2021-05
Issue:3
Volume:20
Page:473-484
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ISSN:1569-1993
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Container-title:Journal of Cystic Fibrosis
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language:en
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Short-container-title:Journal of Cystic Fibrosis
Author:
da Silva Filho Luiz Vicente Ribeiro FerreiraORCID, Maróstica Paulo José Cauduro, Athanazio Rodrigo AbensurORCID, Reis Francisco José Caldeira, Damaceno Neiva, Paes Angela Tavares, Hira Adilson Yuuji, Schlesinger David, Kok Fernando, Amaral Margarida D., Antunes Mara Lícia Machado, Andries Lilian Cristina Ferreira, de Castro Virginia Auxiliadora Freitas, Adde Fabíola Villac, Perez Maria Fernanda Botelho Hernandez, Dantas Vera Maria, Monte Luciana de Freitas Velloso, Goya Adriana, Rached Samia, Costa Lusmaia Damaceno Camargo, Prado Lorenna Junqueira Almeida, Guimarães Elizabet Vilar, de Carvalho Fernandez Fonseca Ana Cristina, Nishi Marina Pires, Riedi Carlos Antônio, Filho Nelson Augusto Rosario, Canan Mariane Gonçalves Martynychen, Fernandes Maria Inez Machado, Augustin Albin Eugenio, Garcia Rosângela Villela, da Silva Zembrzuski Maria Margarete, de Oliveira Kátia Izabel, Hoffmann Anneliese, Ricachinevsky Cláudio, de Tarso Roth Dalcin Paulo, Ziegler Bruna, de Souza Paiva Borgli Daniela, Ferrao Daniele Menezes Torres, da Silva Elizabeth Passos Simoes, Santana Maria Angelica, de Sousa Maria Amenaide Carvalho Alves, de Castro e Silva Claudia, Filho Evalto Monte de Araujo, Veras Tiago Neves, Neto Noberto Ludwig, Cutolo Luiz Roberto Agea, Vergara Alberto Andrade, Melo Suzana Fonseca Oliveira, Moreira Maria do Espírito Santo Almeida, Melotti Roberta de Cássia Nunes Cruz, Malini Fernanda Barbosa dos Santos, de Fuccio Marcelo Bicalho, Pessoa Bruno Porto, Esposito Concetta, Kussek Paulo Cesar, Foletto Glaunir Maria, Pinto Leonardo Araujo, Epifanio Matias, Rodrigues Marcelo Tadday, Duarte Marta Cristina, Meneses Daniela Gois, de Carvalho Martins Valéria, Valente Sônia Elenita Lopes, de Azevedo Ferreira Arlan, Cartaxo Constantino Giovanni Braga, Haidar Denise Maria Costa, Firmida Mônica de Cássia, de Castro Marcos César Santos, de Souza Edna Lucia Santos, Mota Lais Ribeiro, de Negreiros Moura Katharina Vidal, Rodrigues Joaquim Carlos, Nakaie Cleyde Myriam Aversa, Folescu Tânia Wrobel, Sad Izabela, de Britto Murilo Carlos Amorim, Castelletti Carlos Henrique Medeiros, Gonçalves Cláudia Mello, Muramatu Lucia, Fischer Gilberto Bueno, Ferrari Giesela Fleischer, Tostes Luciana Oliveira Silvano, Bertuzzo Carmen Silvia, Marson Fernando Augusto de Lima, Chiba Sonia Mayumi, De Sillos Marcela Duarte
Funder
Vertex Pharmaceuticals
Subject
Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health
Reference43 articles.
1. Cystic fibrosis;Ratjen;Nat Rev Dis Primers,2015 2. Cystic fibrosis;O'Sullivan;Lancet,2009 3. The future of cystic fibrosis care: a global perspective;Bell;The Lancet Respiratory Med,2019 4. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients;Raskin;J Cyst Fibros,2008 5. Brazilian Cystic Fibrosis Study Group 2018. The Brazilian cystic fibrosis patient registry 2016. http://www.gbefc.org.br/ckfinder/userfiles/files/REBRAFC_2016_EN.pdf (accessed April 20th, 2020).
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