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Article

Spectrum of mutations in CFTR in Finland: 18 years follow-up study and identification of two novel mutations.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Dec 2005

Kinnunen Satu, Bonache Sandra, Casals Teresa, Monto Sanni, Savilahti Erkki, Kere Juha, Järvelä Irma

Abstract excerpt

BACKGROUND: The incidence of cystic fibrosis (CF) is low in the isolated Finnish population and the Finnish CF mutation spectrum has differed from many European countries. METHODS: We have analyzed the mutation spectrum and the geographical distribution of CF mutations in Finland covering the last 18 years (1987-2004). RESULTS: A total of 14 mutations were identified; two of them new, 774insT and S589T (G>C at...

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Source

Identifiers

PMID: 16051530
DOI: 10.1016/j.jcf.2005.06.002

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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