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Article

Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2016

Ramalho Anabela S, Clarke Luka A, Sousa Marisa, Felicio Verónica, Barreto Celeste, Lopes Carlos, Amaral Margarida D

Abstract excerpt

The Cystic Fibrosis p.Ile1234Val missense mutation actually creates a new dual splicing site possibly used either as a new acceptor or donor. Here, we aimed to test the accuracy of in silico predictions by comparing them with in vitro and ex vivo functional analyses of this mutation for an accurate CF diagnosis/prognosis. To this end, we applied a new in vitro strategy using a CFTR mini-gene which includes the...

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Source

Identifiers

PMID: 25735457
DOI: 10.1016/j.jcf.2015.02.002

Genes

CFTR

Variants

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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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