Article
Correlating genotype with phenotype using CFTR-mediated whole-cell Cl- currents in human nasal epithelial cells.
The Journal of physiology - 1 Mar 2022
Noel Sabrina, Servel Nathalie, Hatton Aurélie, Golec Anita, Rodrat Mayuree, Ng Demi R S, Li Hongyu, Pranke Iwona, Hinzpeter Alexandre, Edelman Aleksander, Sheppard David N, Sermet-Gaudelus Isabelle
Abstract excerpt
Dysfunction of the epithelial anion channel cystic fibrosis transmembrane conductance regulator (CFTR) causes a wide spectrum of disease, including cystic fibrosis (CF) and CFTR-related diseases (CFTR-RDs). Here, we investigate genotype-phenotype-CFTR function relationships using human nasal epithelial (hNE) cells from a small cohort of non-CF subjects and individuals with CF and CFTR-RDs and genotypes associated...
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