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• W3198554666 abstract "Introduction: Cystic fibrosis (CF) is the most frequent autosomicalrecessive disorder in Caucasian population with an incidence of 1 in2000 newborns. The disease is caused by mutations in the cftr gene, butthe most common mutation is F508del, which accounts for 66% of CFchromosomes worldwide and a carrier frequency for Caucasian populationof 1 in 25. Objective: To determine the carrier frequency of theF508del mutation in 110 unrelated, healthy students from the Facultadde Medicina, Universidad del Rosario. Methods: The presence of F508delmutation using PCR and heteroduplex analysis was determined. Results:Only four heterozygotes for F508del mutation were discovered. Thisrepresents a carrier frequency of 1 in 27 students. Conclusions: Thisestimated frequency of F508del carriers is higher than expected,encouraging further screening in normal control individuals fromdifferent regions of Colombia." @default.
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• W3198554666 date "2007-01-01" @default.
• W3198554666 modified "2023-09-26" @default.
• W3198554666 title "Carrier frequency of F508del mutation of cystic fibrosis in medical students from Universidad del Rosario, Bogotá, Colombia" @default.
• W3198554666 hasPublicationYear "2007" @default.
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