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Article

Characterization of CFTR mutations in people with cystic fibrosis and severe liver disease who are not eligible for CFTR modulators.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Mar 2023

Colombo Carla, Ramm Grant A, Lindblad Anders, Corti Fabiola, Porcaro Luigi, Alghisi Federico, Asherova Irina, Evans Helen, Kashirskaya Nataliya, Kondratyeva Elena, Lewindon Peter J, de Monestrol Isabelle, Oliver Mark, Ooi Chee Y, Padoan Rita, Shankar Sahana, Alicandro Gianfranco

Abstract excerpt

Cystic-fibrosis-related liver disease (CFLD) is a variable phenotype of CF. The severe CFLD variant with cirrhosis or portal hypertension has a poor prognosis and life expectancy. CFTR modulator therapies are now available for people with CF and eligibility for such treatment is based on their CFTR genotype. We evaluated the genetic eligibility for elexacaftor, tezacaftor, ivacaftor (ETI), and ivacaftor (IVA)...

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Identifiers

PMID: 36739240
DOI: 10.1016/j.jcf.2023.01.012

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