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
40932846 (PubMed )
Supplement: mmc2.xlsx › TRUE
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
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
20059485 (PubMed )
Supplement: supplement_1.pdf
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Hu X et al.
European Journal of Human Genetics : Ejhg, 2003
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O et al.
American Journal of Human Genetics, 2001
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
Le Saux O et al.
Nature Genetics, 2000
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