Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients
- 1 July 1993
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 44 (1) , 12-14
- https://doi.org/10.1111/j.1399-0004.1993.tb03834.x
Abstract
We have searched for the delta F508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the delta F508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.Keywords
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