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Article

Clinical phenotype of cystic fibrosis patients with the G551D mutation.

QJM : monthly journal of the Association of Physicians - 1 Nov 2009

Comer D M, Ennis M, McDowell C, Beattie D, Rendall J, Hall V, Elborn J S

Abstract excerpt

BACKGROUND: Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. AIM: We hypothesized that CF patients with the G551D mutation would have less severe disease than F508del homozygotes. DESIGN: We compared the clinical phenotype of adult patients with a G551D mutation with...

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Share to Child
Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Source

Identifiers

PMID: 19734299
DOI: 10.1093/qjmed/hcp120

Genes

FEV
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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