Peer-Reviewed Journal Details
Mandatory Fields
Devaney, J,Glennon, M,Farrell, G,Ruttledge, M,Smith, T,Houghton, JA,Maher, M
2003
February
Clinical Genetics
Cystic fibrosis mutation frequencies in an Irish population
Published
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Optional Fields
ABCC7 CFTR cystic fibrosis frequency GMPD Ireland mutation TRANSMEMBRANE CONDUCTANCE REGULATOR CFTR GENE VAS-DEFERENS CONGENITAL ABSENCE IDENTIFICATION ALLELES DNA ACCOUNT FRANCE REGION
63
121
125
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.
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