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Article

Mild cystic fibrosis in patients with the rare P5L CFTR mutation.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2012

Spicuzza Lucia, Sciuto Concetta, Di Dio Lucia, Mattina Teresa, Leonardi Salvatore, del Giudice Michele Miraglia, La Rosa Mario

Abstract excerpt

Over 1800 Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) mutations have been identified so far, determining different degrees of CFTR dysfunction and a range of different cystic fibrosis phenotypes. The P5L CFTR mutation is a recently described N-terminus missense variant which may cause defect of protein folding and processing/trafficking, but the functional classification is still unclear....

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Source

Identifiers

PMID: 21983161
DOI: 10.1016/j.jcf.2011.08.009

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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