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Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.
Amato, Felice; Scudieri, Paolo; Musante, Ilaria; Tomati, Valeria; Caci, Emanuela; Comegna, Marika; Maietta, Sabrina; Manzoni, Francesca; Di Lullo, Antonella Miriam; De Wachter, Elke; Vanderhelst, Eef; Terlizzi, Vito; Braggion, Cesare; Castaldo, Giuseppe; Galietta, Luis J V.
Afiliação
  • Amato F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, CEINGE - Biotecnologie Avanzate, Naples, Italy.
  • Scudieri P; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Musante I; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
  • Tomati V; UOC Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.
  • Caci E; UOC Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.
  • Comegna M; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, CEINGE - Biotecnologie Avanzate, Naples, Italy.
  • Maietta S; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, CEINGE - Biotecnologie Avanzate, Naples, Italy.
  • Manzoni F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, CEINGE - Biotecnologie Avanzate, Naples, Italy.
  • Di Lullo AM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, CEINGE - Biotecnologie Avanzate, Naples, Italy.
  • De Wachter E; CF Centre, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
  • Vanderhelst E; CF Centre, Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel, Brussels, Belgium.
  • Terlizzi V; Centro Regionale Toscano Fibrosi Cistica, Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy.
  • Braggion C; Centro Regionale Toscano Fibrosi Cistica, Azienda Ospedaliero-Universitaria Meyer, Firenze, Italy.
  • Castaldo G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, CEINGE - Biotecnologie Avanzate, Naples, Italy.
  • Galietta LJV; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Hum Mutat ; 40(6): 742-748, 2019 06.
Article em En | MEDLINE | ID: mdl-30851139
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação Puntual / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação Puntual / Regulador de Condutância Transmembrana em Fibrose Cística / Fibrose Cística Limite: Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article