Associated Papers
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Triangulating variation in the population to define mechanisms for precision management of genetic disease.
Wang C et al.
Structure (london, England : 1993), 2022
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites
Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.
Phuan PW et al.
Scientific Reports, 2019
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
Han ST et al.
Jci Insight, 2018
Functional characterisation of the CFTR mutations M348V and A1087P from patients with pancreatitis suggests functional interaction between CFTR monomers.
Weiss FU et al.
Gut, 2009
Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls.
Weiss FU et al.
Gut, 2005
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