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Article

[Screening of the delta-F508 mutation and analysis of two Single Nucleotide Polymorphism of the CFTR gene, in a sample of the general population of Valparaíso, Chile].

Revista medica de Chile - 1 Jul 2005

Vera Alejandra, Henríquez-Roldán Carlos F, González Francisco J, Molina Graciela

Abstract excerpt

BACKGROUND: The Cystic Fibrosis (CF) carrier rate in Chile was estimated to be 1/40. CF is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Delta F508 mutation is the most common in CF patients in Chile and worldwide. Delta F508 has linkage disequilibrium with two Single Nucleotide Polymorphisms (SNP), often used to define the haplotypic frameworks of CF mutations. AIM:...

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Source

Identifiers

PMID: 16341382
DOI: 10.4067/s0034-98872005000700003

Genes

CFTR

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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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