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Cystic fibrosis mutation frequencies in an Irish population
Authors:Devaney J  Glennon M  Farrell G  Ruttledge M  Smith T  Houghton J A  Maher M
Affiliation:National 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.
Keywords:ABCC7    CFTR    cystic fibrosis    frequency    GMPD    Ireland    mutation
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