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Article

Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jan 2006

Peckham D, Conway S P, Morton A, Jones A, Webb K

Abstract excerpt

We report late diagnoses of cystic fibrosis (CF) in two men aged 61 and 65 years. At the time of presentation, both patients had significant pulmonary disease. In each case two CFTR gene mutations were identified, including R117H on a background of a poly T genotype of 7T/9T. Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible...

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Identifiers

PMID: 16266832
DOI: 10.1016/j.jcf.2005.09.009

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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