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Article

Fine characterization of the recurrent c.1584+18672A>G deep-intronic mutation in the cystic fibrosis transmembrane conductance regulator gene.

American journal of respiratory cell and molecular biology - 1 May 2013

Costantino Lucy, Rusconi Damiana, Soldà Giulia, Seia Manuela, Paracchini Valentina, Porcaro Luigi, Asselta Rosanna, Colombo Carla, Duga Stefano

Abstract excerpt

Splicing mutations account for approximately 12% of the 1,890 cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations described in cystic fibrosis (CF). However, their impact on pre-mRNA processing frequently remains unclear. An interesting opportunity to study CFTR transcripts in vivo involves the use of RNA from nasal brushings. Through this approach we previously identified a deep-intronic...

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Identifiers

PMID: 23349053
DOI: 10.1165/rcmb.2012-0371OC

Genes

CFTR

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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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