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Article

Modeling cystic fibrosis disease progression in patients with the rare CFTR mutation P67L.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2017

MacKenzie Isobel E R, Paquette Valerie, Gosse Frances, George Sheenagh, Chappe Frederic, Chappe Valerie

Abstract excerpt

BACKGROUND: The progression of cystic fibrosis (CF) in patients with the rare mutation P67L was examined to determine if it induced a milder form of CF compared to the common severe ΔF508 mutation. METHODS: Parameters of lung function, level of bacterial infection, nutritional status and hospitalization were used to represent CF progression. Age at diagnosis and pancreatic status were used to assess CF...

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Source

Identifiers

PMID: 28392015
DOI: 10.1016/j.jcf.2017.03.008

Genes

CFTR

Variants

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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