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- W4239492746 abstract "Objective: We sought to define the frequency of common cystic fibrosis mutations in white and black American probands from our geographic region.Study Design: Mutation analysis was performed for AF508, G551 D, G542X, R553X, S549N, and N1303K. For probands with undetermined mutations single-stranded conformational polymorphism analysis was performed.Results: Among 40 white subjects with cystic fibrosis 26 (65%) were homozygous for OF508, 10 (25%) were heterozygous for AF508 and another unknown mutation, and two were homozygous for unknown mutations. Among 10 black probands one was homozygous for ΔF508, seven (70%) were heterozygous for AF508 and another unknown mutation, and one was homozygous for unknown mutations. Single-stranded conformational polymorphism analysis for selected exons was performed for 11 probands with unknown mutations. One mutation was detected in a white proband. Sequencing of this exon showed the mutation to be 0493X.Conclusions: Thirty percent of white subjects and 80% of black subjects carried unknown mutations. In one family single-stranded conformational polymorphism was informative in identifying an undetermined cystic fibrosis mutation." @default.
- W4239492746 created "2022-05-12" @default.
- W4239492746 date "1994-09-01" @default.
- W4239492746 modified "2023-10-14" @default.
- W4239492746 title "Author index" @default.
- W4239492746 doi "https://doi.org/10.1016/0009-8981(94)90244-5" @default.
- W4239492746 hasPublicationYear "1994" @default.
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