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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...

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Identifiers

PMID: 7521321
DOI: 10.1007/BF00208286

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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