Associated Papers
Variability in disease severity among cystic fibrosis patients carrying residual-function variants: data from the European Cystic Fibrosis Society Patient Registry.
Mei-Zahav M et al.
Erj Open Research, 2025
A comprehensive review of cystic fibrosis in Africa and Asia.
Abubakar Bobbo K et al.
Saudi Journal of Biological Sciences, 2023
A review of cystic fibrosis: Basic and clinical aspects.
Chen Q et al.
Animal Models and Experimental Medicine, 2021
Whole-Exome Sequencing Identified CFTR Variants in Two Consanguineous Families in China.
Yang B et al.
Frontiers in Genetics, 2021
A systematic review of the clinical and genetic characteristics of Chinese patients with cystic fibrosis.
Shi R et al.
Pediatric Pulmonology, 2020
c.753_754delAG, a novel CFTR mutation found in a Chinese patient with cystic fibrosis: A case report and review of the literature.
Wang YQ et al.
World Journal of Clinical Cases, 2019
A new compound heterozygous CFTR mutation in a Chinese family with cystic fibrosis.
Xie Y et al.
The Clinical Respiratory Journal, 2017
Four case reports of Chinese cystic fibrosis patients and literature review.
Xu J 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
Role of CFTR variants explored in developing cystic fibrosis symptoms: Latest research highlights disease manifestations in diverse ethnicities of children.
Unknown Author
American Journal of Medical Genetics. Part A, 2016
p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis.
Tian X et al.
Human Genome Variation, 2016
Benign and Deleterious Cystic Fibrosis Transmembrane Conductance Regulator Mutations Identified by Sequencing in Positive Cystic Fibrosis Newborn Screen Children from California.
Salinas DB et al.
Plos One, 2016
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
Schrijver I et al.
The Journal of Molecular Diagnostics : Jmd, 2005
Cystic fibrosis with homozygous R553X mutation in a Taiwanese child.
Chen HJ et al.
Journal of Human Genetics, 2005
Cystic fibrosis transmembrane conductance regulator gene screening and clinical correlation in Taiwanese males with congenital bilateral absence of the vas deferens.
Wu CC et al.
Human Reproduction (oxford, England), 2004
[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
Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations.
Wong LJ et al.
American Journal of Medical Genetics. Part A, 2003
Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients.
Alper OM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2003
Novel cystic fibrosis mutation (2215insG) in two adolescent Taiwanese siblings.
Wu CL et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2000