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Article

[Correlation between phenotype and genotype in a group of patients with cystic fibrosis].

Revista medica de Chile - 1 May 2002

Navarro Héctor, Kolbach Marianne, Repetto Gabriela, Guiraldes Ernesto, Harris Paul, Foradori Arnaldo, Poggi Helena, Sánchez Ignacio

Abstract excerpt

BACKGROUND: Cystic fibrosis (CF) is the most common lethal autosomic disease in Caucasians, with a global incidence of 1:3000 newborns. More than 900 mutations have been described, involving the Cystic Fibrosis Transmembrane Regulator (CFTR). The delta F508 mutation is present in 60% of alleles studied worldwide. AIM: To report 25 patients with cystic fibrosis in whom a genetic study was done. MATERIAL AND...

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Source

Identifiers

PMID: 12143267

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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