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Article

Cystic fibrosis with non-G551D gating mutations in Italy: Epidemiology and clinical characteristics.

Pediatric pulmonology - 1 Feb 2021

Salvatore Donatello, Carnovale Vincenzo, Majo Fabio, Padoan Rita, Salvatore Marco, Taruscio Domenica, Amato Annalisa, Ferrari Gianluca, Campagna Giuseppe

Abstract excerpt

BACKGROUND: Cystic fibrosis transmembrane conductance regulator (CFTR) gating mutations (GMs) result in CFTR that is present at the cell surface but nonfunctional. Patients with the G551D mutation, the most prevalent worldwide, have been well studied. Italian GM patients have mainly non-G551D mutations. We studied their epidemiology and clinical characteristics in the period spanning the pre/post ivacaftor...

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PMID: 33219628
DOI: 10.1002/ppul.25179

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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