| Literature DB >> 2210766 |
E K Watson1, E S Mayall, L Simova, E M Thompson, J O Warner, R Williamson, C Williams.
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.Entities:
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Year: 1990 PMID: 2210766 DOI: 10.1007/bf02428303
Source DB: PubMed Journal: Hum Genet ISSN: 0340-6717 Impact factor: 4.132