Associated Papers
Elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis harbouring two CFTR Class I variants: real-world data from the French compassionate programme.
Burgel PR et al.
Eclinicalmedicine, 2025
Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.
Ahting S et al.
International Journal of Molecular Sciences, 2025
40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info
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
39811546 (PubMed )
Supplement: 00587-2024.SUPPLEMENT.pdf
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.
Sarparanta J et al.
International Journal of Molecular Sciences, 2020
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 › INHOUSE_CFTR
Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.
Lundman E et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2016
Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.
Kanetsky PA et al.
Cancer Research, 2006
DHPLC screening of cystic fibrosis gene mutations.
Ravnik-Glavac M et al.
Human Mutation, 2002
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene.
Macek M et al.
Human Mutation, 1997
Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.
Estivill X et al.
Human Mutation, 1997
Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
Ravnik-Glavac M et al.
Human Molecular Genetics, 1994
Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.
Shackleton S et al.
Human Mutation, 1994
Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
Shackleton S et al.
Human Molecular Genetics, 1992
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