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Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
Terlizzi, Vito; Pesce, Emanuela; Capurro, Valeria; Tomati, Valeria; Lena, Mariateresa; Pastorino, Cristina; Bocciardi, Renata; Zara, Federico; Centrone, Claudia; Taccetti, Giovanni; Castellani, Carlo; Pedemonte, Nicoletta.
Afiliação
  • Terlizzi V; Department of Paediatric Medicine, Meyer Children's Hospital IRCCS, Cystic Fibrosis Regional Reference Center, 50139 Florence, Italy.
  • Pesce E; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Capurro V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Tomati V; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Lena M; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Pastorino C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genova, Italy.
  • Bocciardi R; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Zara F; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Centrone C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genova, Italy.
  • Taccetti G; UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Castellani C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16126 Genova, Italy.
  • Pedemonte N; Diagnostic Genetics Unit, Careggi University Hospital, 50134 Florence, Italy.
Int J Mol Sci ; 24(7)2023 Mar 31.
Article em En | MEDLINE | ID: mdl-37047546
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies Limite: Adolescent / Adult / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article