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Article

Cystic fibrosis mutation I1234V in a Qatari lady.

Journal of tropical pediatrics - 1 Feb 2003

Wahab A Abdul

Abstract excerpt

We describe a late diagnosis of cystic fibrosis (CF) in a multiparous Qatari lady, in whom the main presenting symptoms were those of chronic lung disease. Genetic analysis showed that the patient has a homozygous mutation I1234V in the cystic fibrosis transmembrane conductance regulator gene. This suggests that this mutation has a variable expression of clinical severity and long survival.

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Identifiers

PMID: 12630722
DOI: 10.1093/tropej/49.1.54

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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