Associated Papers
Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.
Lu Y et al.
Asian Journal of Andrology, 2025
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 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
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M et al.
Human Genetics, 2021
F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients.
Zhang X et al.
Life (basel, Switzerland), 2021
Personalized medicine in CF: from modulator development to therapy for cystic fibrosis patients with rare CFTR mutations.
Harutyunyan M et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology, 2018
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
Pol A et al.
Nature Genetics, 2018
29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR
Lumacaftor/ivacaftor combination for cystic fibrosis patients homozygous for Phe508del-CFTR.
Zhang W et al.
Drugs of Today (barcelona, Spain : 1998), 2016
c.3623G > A mutation encodes a CFTR protein with impaired channel function.
Zhang X et al.
Respiratory Research, 2016
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