CFTR mutations in Chilean cystic fibrosis patients.

doi:10.1007/BF00208286

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Article

CFTR mutations in Chilean cystic fibrosis patients.

Human genetics - 1 Sept 1994

Rios J, Orellana O, Aspillaga M, Avendano I, Largo I, Riveros N

Abstract excerpt

An analysis of five of the most common cystic fibrosis (CF) mutations worldwide (delta F-508, R-553X, G-551D, N-1303K and G-542X) was performed in 36 Chilean patients. Polymerase chain reaction (PCR) amplification of the DNA followed by allele specific restriction enzyme analysis was used for detection. The overall frequencies of the mutations in the chromosomes analyzed were 29.2% for delta F-508 and 4.2% for...

Topics

Adult
Alleles
Base Sequence
Child
Child, Preschool
Chile
Chloride Channels
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
DNA Mutational Analysis
DNA Primers

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA Probes

Electrophoresis, Polyacrylamide Gel

Gene Frequency

Humans

Membrane Proteins

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 7521321
DOI: 10.1007/BF00208286

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7521321-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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