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

doi:10.1007/BF00220546

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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...

Topics

Blotting, Southern
Chromosome Deletion
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Czechoslovakia
Gene Frequency
Haplotypes
Humans
Membrane Proteins
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Source

Open in PubMed

Identifiers

PMID: 1376297
DOI: 10.1007/BF00220546

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1376297-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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