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Article

Frequency of the delta F508 and exon 11 mutations in Norwegian cystic fibrosis patients.

Clinical genetics - 1 Jul 1993

Eiklid K, Tranebjaerg L, Eiken H G, Pedersen J C, Michalsen H, Fluge G, Schwartz M, Nilsen B R, Bolle R, Skyberg D

Abstract excerpt

We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.

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

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Source

Identifiers

PMID: 7691448
DOI: 10.1111/j.1399-0004.1993.tb03834.x

Genes

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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