Suggestions

Du même auteur

Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children

Archive ouverte | Orenti, Annalisa | CCSD

International audience. Rationale: Limited information is available on the clinical status of people with Cystic Fibrosis (pwCF) carrying 2 nonsense mutations (PTC/PTC). The main objective of this study was to compa...

Theratyping cystic fibrosis patients to guide elexacaftor/tezacaftor/ivacaftor out-of-label prescription

Archive ouverte | Dreano, Elise | CCSD

International audience. Background Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the F508del...

Exon identity influences splicing induced by exonic variants and in silico prediction efficacy

Archive ouverte | Martin, Natacha | CCSD

International audience. Background: Minigenes and in silico prediction tools are commonly used to assess the impact on splicing of CFTR variants. Exon skipping is often neglected though it could impact the efficacy ...

Chargement des enrichissements...