Cystic fibrosis haplotype association and the delta F508 mutation in adult British CF patients.
The delta F508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult British CF patients. delta F508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of pancreatic sufficient CF chromosomes. All patients with meconium ileus were homozygous for the deletion.
Department of Cystic Fibrosis, Brompton Hospital, London, UK.
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G
Santis
L
L
Osborne
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R
Knight
M
M
Ramsay
R
R
Williamson
M
M
Hodson
D000328:Adult; D003550:Cystic Fibrosis / Q000453:epidemiology / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D009154:Mutation; D006113:United Kingdom / Q000453:epidemiology