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Article

P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.

Journal of medical genetics - 1 Feb 1998

Gilfillan A, Warner J P, Kirk J M, Marshall T, Greening A, Ho L P, Hargreave T, Stack B, McIntyre D, Davidson R, Dean J C, Middleton W, Brock D J

Abstract excerpt

Only three mutant cystic fibrosis (CF) alleles have to date been established as conferring a dominant mild effect on affected subjects who are compound heterozygotes. We now add a fourth, P67L, which occurs on about 1.4% of Scottish CF chromosomes. Among 13 patients (12 unrelated) with this allele, the average age at diagnosis was 22.5 +/- 11.3 years. None of the cases had consistently raised sweat chloride...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 9507391
DOI: 10.1136/jmg.35.2.122
PMCID: PMC1051215

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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