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Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.
Cuyx, Senne; Ramalho, Sofia S; Callebaut, Isabelle; Cuppens, Harry; Kmit, Arthur; Arnauts, Kaline; Ferrante, Marc; Verfaillie, Catherine; Ensinck, Marjolein; Carlon, Marianne S; Boon, Mieke; Proesmans, Marijke; Dupont, Lieven; De Boeck, Kris; Farinha, Carlos M; Vermeulen, François; Ramalho, Anabela S.
Afiliación
  • Cuyx S; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium.
  • Ramalho SS; University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Callebaut I; Sorbonne Université, Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, F-75005 Paris, France.
  • Cuppens H; Harelias BV, B-1000 Brussels, Belgium.
  • Kmit A; University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Arnauts K; Department of Chronic Diseases, Metabolism and Ageing (CHROMETA), Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium; KU Leuven, Department of Development and Regeneration, Stem Cell Institute Leuven (SCIL), B-3000 Leuven, Belgium.
  • Ferrante M; Department of Chronic Diseases, Metabolism and Ageing (CHROMETA), Translational Research Center for Gastrointestinal Disorders (TARGID), KU Leuven, Leuven, Belgium; KU Leuven, Department of Gastroenterology and Hepatology, University Hospital Leuven, B-3000 Leuven, Belgium.
  • Verfaillie C; KU Leuven, Department of Development and Regeneration, Stem Cell Institute Leuven (SCIL), B-3000 Leuven, Belgium.
  • Ensinck M; Laboratory for Molecular Virology and Drug Discovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium; KU Leuven, Department of Chronic Diseases, Metabolism and Ageing; BREATHE, B-3000 Leuven, Belgium.
  • Carlon MS; Laboratory for Molecular Virology and Drug Discovery, Department of Pharmaceutical and Pharmacological Sciences, KU Leuven, Leuven, 3000, Belgium; KU Leuven, Department of Chronic Diseases, Metabolism and Ageing; BREATHE, B-3000 Leuven, Belgium.
  • Boon M; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium.
  • Proesmans M; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium.
  • Dupont L; KU Leuven, Department of Chronic Diseases, Metabolism and Ageing; BREATHE, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Respiratory Diseases, B-3000 Leuven, Belgium.
  • De Boeck K; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium.
  • Farinha CM; University of Lisboa, BioISI - Biosystems & Integrative Sciences Institute, Faculty of Sciences, Campo Grande, C8 bdg, 1749-016 Lisboa, Portugal.
  • Vermeulen F; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium; University Hospital Leuven, Department of Pediatrics, Pediatric Pulmonology, B-3000 Leuven, Belgium.
  • Ramalho AS; KU Leuven, Department of Development and Regeneration, Woman and Child Unit, CF research lab, B-3000 Leuven, Belgium.
J Cyst Fibros ; 21(4): 644-651, 2022 07.
Article en En | MEDLINE | ID: mdl-35690578
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Cyst Fibros Año: 2022 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans Idioma: En Revista: J Cyst Fibros Año: 2022 Tipo del documento: Article País de afiliación: Bélgica