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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...

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons

Archive ouverte | Pranke, Iwona | CCSD

International audience. Premature termination codons (PTCs) are generally associated with severe forms of genetic diseases. Readthrough of in-frame PTCs using small molecules is a promising therapeutic approach. Non...

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...

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