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• W1834373602 startingPage "121" @default.
• W1834373602 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." @default.
• W1834373602 created "2016-06-24" @default.
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• W1834373602 date "2003-03-10" @default.
• W1834373602 modified "2023-09-30" @default.
• W1834373602 title "Cystic fibrosis mutation frequencies in an Irish population" @default.
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• W1834373602 doi "https://doi.org/10.1034/j.1399-0004.2003.00017.x" @default.
• W1834373602 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12630958" @default.
• W1834373602 hasPublicationYear "2003" @default.
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