Clinical and molecular characterization of the R751L-CFTR mutation

Cystic fibrosis (CF) arises from mutations in the CF transmembrane conductance regulator (CFTR) gene, resulting in progressive and life-limiting respiratory disease. R751L is a rare CFTR mutation that is poorly characterized. Our aims were to describe the clinical and molecular phenotypes associated...

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Detalles Bibliográficos
Autores principales: Haq, Iram J., Althaus, Mike, Gardner, Aaron Ions, Yeoh, Hui Ying, Joshi, Urjita, Saint-Criq, Vinciane, Verdon, Bernard, Townshend, Jennifer, O’Brien, Christopher, Ben-Hamida, Mahfud, Thomas, Matthew, Bourke, Stephen, van der Sluijs, Peter, Braakman, Ineke, Ward, Chris, Gray, Michael A., Brodlie, Malcolm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Physiological Society 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8476205/
https://www.ncbi.nlm.nih.gov/pubmed/33296276
http://dx.doi.org/10.1152/ajplung.00137.2020

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