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Clin Genet. 2003 Feb;63(2):121-5.

Cystic fibrosis mutation frequencies in an Irish population.

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  • 1National Diagnostics Center, BioResearch Ireland, National University of Ireland, Galway, Republic of Ireland. jdevaney@rcsi.ie

Abstract

The incidence of cystic fibrosis (CF) at birth in Ireland is 1/1461. Neonate CF genetic testing is not routinely performed in Ireland. Currently, screening is only carried out where there is clinical evidence or a family history to suggest disease. Here we report the frequencies of common CF mutations occurring in an Irish population composed of samples collected from western, mid-western and southern regions of Ireland. Rarer CF mutations were also identified in a selected number of CF patients. In addition, a number of polymorphisms were identified, some of which are reported to be functionally and phenotypically important.

PMID:
12630958
[PubMed - indexed for MEDLINE]
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