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. 1990 Sep;85(4):435-6.
doi: 10.1007/BF02428303.

The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families

E K Watson  1 , E S Mayall, L Simova, E M Thompson, J O Warner, R Williamson, C Williams
Affiliations

The incidence of delta F508 CF mutation, and associated haplotypes, in a sample of English CF families

E K Watson et al. Hum Genet. 1990 Sep.

Abstract

Data are presented for delta F508 screening and KM19/XV2c haplotype analysis of 195 cystic fibrosis (CF) chromosomes from the British Caucasian population. We report the frequency of delta F508 in this group to be 80% and find pronounced disequilibrium between the deletion and the KM 2, XV 1 haplotype. Haplotype analysis of 71 normal chromosomes is also presented. We report one individual who had meconium ileus and who does not have the delta F508 mutation on either chromosome.

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