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- Title
Cystic fibrosis mutation frequencies in an Irish population.
- Authors
Devaney, J; Glennon, M; Farrell, G; Ruttledge, M; Smith, T; Houghton, J A; Maher, M
- 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.
- Publication
Clinical genetics, 2003, Vol 63, Issue 2, p121
- ISSN
0009-9163
- Publication type
Journal Article
- DOI
10.1034/j.1399-0004.2003.00017.x