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Article

Severity of the S1251N allele in cystic fibrosis is affected by the presence of the F508C variant in cis.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2022

Cuyx Senne, Ramalho Sofia S, Callebaut Isabelle, Cuppens Harry, Kmit Arthur, Arnauts Kaline, Ferrante Marc, Verfaillie Catherine, Ensinck Marjolein, Carlon Marianne S, Boon Mieke, Proesmans Marijke, Dupont Lieven, De Boeck Kris, Farinha Carlos M, Vermeulen François, Ramalho Anabela S

Abstract excerpt

BACKGROUND: In cystic fibrosis (CF), genotype-phenotype correlation is complicated by the large number of CFTR variants, the influence of modifier genes, environmental effects, and the existence of complex alleles. We document the importance of complex alleles, in particular the F508C variant present in cis with the S1251N disease-causing variant, by detailed analysis of a patient with CF, with the...

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Identifiers

PMID: 35690578
DOI: 10.1016/j.jcf.2022.05.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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