Associated Papers
Splicing mutations in the CFTR gene as therapeutic targets.
Deletang K et al.
Gene Therapy, 2022
35650428 (PubMed )
Supplement: 41434_2022_347_MOESM2_ESM.pdf
Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2022
35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
Álvarez A et al.
Archivos De Bronconeumologia, 2021
Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.
Keegan NP et al.
Frontiers in Genetics, 2021
35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.
Álvarez A et al.
Archivos De Bronconeumologia, 2020
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Petrova NV et al.
Genes, 2020
Sequencing as a first-line methodology for cystic fibrosis carrier screening.
Beauchamp KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31036917 (PubMed )
Supplement: 41436_2019_525_MOESM3_ESM.xlsx › Sheet1
Small-scale high-throughput sequencing-based identification of new therapeutic tools in cystic fibrosis.
Bonini J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Select a paper to view details