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The novel CFTR haplotype E583G/F508del in CFTR-related disorder.
De Paolis, Elisa; Tilocca, Bruno; Inchingolo, Riccardo; Lombardi, Carla; Perrucci, Alessia; Maneri, Giulia; Roncada, Paola; Varone, Francesco; Luca, Richeldi; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta.
Afiliação
  • De Paolis E; Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.
  • Tilocca B; Clinical Chemistry, Biochemistry and Molecular Biology Operations (UOC), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Inchingolo R; Department of Health Science, University "Magna Graecia" of Catanzaro, Catanzaro, 88100, Italy.
  • Lombardi C; Pulmonary Medicine Unit, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Perrucci A; Clinical Chemistry, Biochemistry and Molecular Biology Operations (UOC), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Maneri G; Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.
  • Roncada P; Departmental Unit of Molecular and Genomic Diagnostics, Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.
  • Varone F; Department of Health Science, University "Magna Graecia" of Catanzaro, Catanzaro, 88100, Italy.
  • Luca R; Pulmonary Medicine Unit, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Urbani A; Pulmonary Medicine Unit, Department of Medical and Surgical Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
  • Minucci A; Catholic University of Sacread Heart, Rome, 1-00168, Italy.
  • Santonocito C; Clinical Chemistry, Biochemistry and Molecular Biology Operations (UOC), Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
Mol Biol Rep ; 51(1): 849, 2024 Jul 25.
Article em En | MEDLINE | ID: mdl-39052151
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Haplótipos / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Haplótipos / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística / Mutação Idioma: En Ano de publicação: 2024 Tipo de documento: Article