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Article

Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.

Molecular and cellular probes - 1 Aug 1996

Deltas C C, Boteva K, Georgiou A, Papageorgiou E, Georgiou C

Abstract excerpt

During the past few years we have been testing the hypothesis that Cyprus may have been spared many severe cystic fibrosis (CF) cases but not cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We have been analysing by molecular methods patients with atypical mild phenotypes where CF enters the differential diagnosis. With this approach we identified a mutation, L346P, which in association with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 8865181
DOI: 10.1006/mcpr.1996.0042

Genes

CFTR

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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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Description of a symptomless cystic fibrosis L346P/M348K compound heterozygous Cypriot individual.PMID 8865181Read ↗

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