Associated Papers
Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.
Ideozu JE et al.
Genome Medicine, 2024
Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.
McDonald EF et al.
Biorxiv : the Preprint Server for Biology, 2024
Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.
McDonald EF et al.
Plos One, 2024
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.
Zacarias S et al.
International Journal of Molecular Sciences, 2023
Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.
Ni Q et al.
Orphanet Journal of Rare Diseases, 2022
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.
Li H et al.
Frontiers in Pediatrics, 2019
Four case reports of Chinese cystic fibrosis patients and literature review.
Xu J et al.
Pediatric Pulmonology, 2017
Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.
Zheng B et al.
Pediatric Pulmonology, 2017
CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Leung GK et al.
Molecular Genetics & Genomic Medicine, 2017
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Tian X et al.
Human Genome Variation, 2016
Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next-generation treatments.
Singh M et al.
Respirology (carlton, Vic.), 2015
Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients.
Liu Y et al.
Respirology (carlton, Vic.), 2015
Cystic fibrosis transmembrane conductance regulator modulators for personalized drug treatment of cystic fibrosis: progress to date.
Becq F
Drugs, 2010
A novel CFTR mutation found in a Chinese patient with cystic fibrosis.
Li N et al.
Chinese Medical Journal, 2006
[A case report of cystic fibrosis and review of 16 cases of cystic fibrosis in Chinese patients].
Li N et al.
Zhonghua Jie He He Hu Xi Za Zhi = Zhonghua Jiehe He Huxi Zazhi = Chinese Journal of Tuberculosis and Respiratory Diseases, 2003