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Identification of single nucleotide variants in SLC26A9 gene in patients with cystic fibrosis (p.Phe508del homozygous) and its association to Orkambi® (Lumacaftor and Ivacaftor) response in vitro.
Santos, Luana Gavioli; Pereira, Stéphanie Villa-Nova; Kmit, Arthur Henrique Pezzo; Bonadia, Luciana Cardoso; Bertuzzo, Carmen Sílvia; Ribeiro, José Dirceu; Mazzola, Taís Nitsch; Marson, Fernando Augusto Lima.
Afiliación
  • Santos LG; Laboratory of Medical Genetics and Genome Medicine, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: luanagaviolidossantos@yahoo.com.br.
  • Pereira SV; Laboratory of Medical Genetics and Genome Medicine, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: stephanie.vnp@gmail.com.
  • Kmit AHP; Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: arthurkmit@gmail.com.
  • Bonadia LC; Laboratory of Medical Genetics and Genome Medicine, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: luciana.bonadia@gmail.com.
  • Bertuzzo CS; Laboratory of Medical Genetics and Genome Medicine, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: bertuzzo@unicamp.br.
  • Ribeiro JD; Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: jdirceur@unicamp.br.
  • Mazzola TN; Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil. Electronic address: mazzolat@unicamp.br.
  • Marson FAL; Laboratory of Medical Genetics and Genome Medicine, Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, Tessália Vieira de Camargo, 126, Cidade Universitária Zeferino Vaz, Campinas 13083-887, São Paulo, Brazil; Center for Investigation in Pediatrics, Faculty of Medic
Gene ; 871: 147428, 2023 Jun 30.
Article en En | MEDLINE | ID: mdl-37068695
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fibrosis Quística Tipo de estudio: Diagnostic_studies / Guideline / Risk_factors_studies Límite: Humans Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fibrosis Quística Tipo de estudio: Diagnostic_studies / Guideline / Risk_factors_studies Límite: Humans Idioma: En Revista: Gene Año: 2023 Tipo del documento: Article