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Article

Lung involvement, the delta F508 mutation and DNA haplotype analysis in cystic fibrosis.

Human genetics - 1 Mar 1992

Santamaria F, Salvatore D, Castiglione O, Raia V, de Ritis G, Sebastio G

Abstract excerpt

Molecular studies of cystic fibrosis (CF) have allowed the genetic analysis of patients by means of DNA markers and the direct analysis of the CF gene. Some limited observations are available on the correlation between phenotype and genotype. Here, we report a study on the correlation of DNA haplotypes identified by KM-19 and XV-2c, the presence of the delta F508 mutation and lung involvement in 82 unrelated CF...

Topics

Adolescent
Adult
Child
Child, Preschool
Cystic Fibrosis
Haplotypes
Humans
Infant
Lung
Mutation
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Respiratory Function Tests

Source

Identifiers

PMID: 1348048
DOI: 10.1007/BF02265288

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1348048-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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