ArticleJournal of medical genetics1993
Prevalence of cystic fibrosis mutations in the Grampian region of Scotland.
Article in Journal of medical genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 12 citations in OpenAlex.
- Antenatal screening for carriers of cystic fibrosis: randomised trial of stepwise v couple screening.BMJ (Clinical research ed.) · 1995Trial
- Cost effectiveness of antenatal screening for cystic fibrosis.BMJ (Clinical research ed.) · 1995Article
- Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: identification of 90% of the mutations.Human genetics · 1995Article
- Evaluation of laboratory methods for cystic fibrosis carrier screening: reliability, sensitivity, specificity, and costs.Journal of medical genetics · 1994Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have identified all known sufferers of cystic fibrosis (CF) alive in the Grampian region, north east Scotland, on 1 January 1989. DNA samples were obtained for a prevalence study of the common mutations with near to complete ascertainment. A relatively high prevalence of the delta F508 mutation was found (82%), with one of four mutations being present on 92% of CF chromosomes. The high prevalence of these four easily detectable mutations in Grampian has local implications for genetic counselling, the efficacy of population carrier screening, and the usefulness of mutation analysis in cases where the diagnosis of CF is in doubt.
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