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Article

3120+1 G-->A: a rare variant in Emirati CF patients.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Feb 2006

Saleheen Danish, Frossard Philippe M

Abstract excerpt

Cystic fibrosis is a multi-system genetic disorder caused by mutation in the cystic fibrosis conductance transmembrane regulator (CFTR) gene located on chromosome 7. In United Arab Emirates (UAE), pattern of CF causing gene mutations is different than rest of the Arabs in the region and 95% of CF in Emirati families has been found due to two mutations only - -p.S549R(T>G) and p.F508del. We report the case of a...

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Identifiers

PMID: 16499810

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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