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Article

Deletion delta F508 and haplotype analysis of CFTR gene region in Slovak CF patients.

Human genetics - 1 May 1992

Kádasi L, Gécz J, Matúsek J, Krivusová T, Ferák V, Devoto M, Hruskovic J, Romeo G

Abstract excerpt

Analysis of a sample of 50 unrelated cystic fibrosis (CF) patients and 46 nuclear families from Slovakia (Czechoslovakia) by the polymerase chain reaction and Southern hybridization revealed that the proportion of the delta F508 mutation was 58% in this population, and that the frequency of the B (i.e., KM19/XV2c [1-2]) haplotype was increased in both delta F508 and non-delta F508 CF chromosomes (98% and 46%,...

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Source

Identifiers

PMID: 1376297
DOI: 10.1007/BF00220546

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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