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Article

Assessing the residual CFTR gene expression in human nasal epithelium cells bearing CFTR splicing mutations causing cystic fibrosis.

European journal of human genetics : EJHG - 1 Jun 2014

Masvidal Laia, Igreja Susana, Ramos Maria D, Alvarez Antoni, de Gracia Javier, Ramalho Anabela, Amaral Margarida D, Larriba Sara, Casals Teresa

Abstract excerpt

The major purpose of the present study was to quantify correctly spliced CFTR transcripts in human nasal epithelial cells from cystic fibrosis (CF) patients carrying the splicing mutations c.580-1G>T (712-1G>T) and c.2657+5G>A (2789+5G>A) and to assess the applicability of this model in CFTR therapeutic approaches. We performed the relative quantification of CFTR mRNA by reverse transcription quantitative PCR...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24129438
DOI: 10.1038/ejhg.2013.238
PMCID: PMC4023213

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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