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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.<\/jats:p>","DOI":"10.1136\/jmg.30.4.316","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"316-317","source":"Crossref","is-referenced-by-count":9,"title":["Prevalence of cystic fibrosis mutations in the Grampian region of Scotland."],"prefix":"10.1136","volume":"30","author":[{"given":"Z H","family":"Miedzybrodzka","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J C","family":"Dean","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Russell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J A","family":"Friend","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K F","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N E","family":"Haites","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1136\/jmg.28.5.317","article-title":"The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling","volume":"28","author":"Shrimpton, A.E.; McIntosh, I.; Brock, D.J.","year":"1991","unstructured":"Shrimpton AE, McIntosh I, Brock DJ. The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling. Med Genet 1991;28:317-21.","journal-title":"Med Genet"},{"key":"ref_2","first-page":"251","article-title":"Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene","volume":"51","author":"Ferrie, R.M.; Schwarz, M.J.; Robertson, N.","year":"1992","unstructured":"Ferrie RM, Schwarz MJ, Robertson N, et al. Development, multiplexing and application of ARMS tests for common mutations in the CFTR gene. Am Hum Genet 1992;51:251-62.","journal-title":"Am Hum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1002\/pd.1970121012","article-title":"Prenatal diagnosis for the cystic fibrosis mutation 1717-1, G-A using ARMS","volume":"12","author":"Miedzybrodzka, Z.H.; Kelly, K.F.; Davidson, M.","year":"1992","unstructured":"Miedzybrodzka ZH, Kelly KF, Davidson M, et al. 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Gradient of distribution in Europe of the major CF mutation and of its associated haplotype. Hum Genet 1990;85:436-40.","journal-title":"Hum Genet"},{"key":"ref_6","first-page":"577","article-title":"Les mutations du gene de la mucoviscidose dans la population Bretonne. (Gene mutations of cystic fibrosis in Brittany population.) Pathol Biol","volume":"39","author":"Ferec, C.; Guillermit, H.; Chaventre, A.","year":"1991","unstructured":"Ferec C, Guillermit H, Chaventre A. Les mutations du gene de la mucoviscidose dans la population Bretonne. (Gene mutations of cystic fibrosis in Brittany population.) Pathol Biol (Paris) 1991;39:577-80.","journal-title":"(Paris)"},{"key":"ref_7","first-page":"40410","article-title":"Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin","volume":"50","author":"Casals, T.; Vazquez, C.; Lazaro, C.","year":"1992","unstructured":"Casals T, Vazquez C, Lazaro C, et al. Cystic fibrosis in the Basque country: high frequency of mutation delta F508 in patients of Basque origin. Am Hum Genet 1992;50:40410.","journal-title":"Am Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1136\/jmg.29.9.642","article-title":"Mutation analysis of 184 cystic fibrosis families in Wales","volume":"29","author":"Cheadle, J.; Myring, J.; Al-Jader, L.","year":"1992","unstructured":"Cheadle J, Myring J, Al-Jader L, et al. Mutation analysis of 184 cystic fibrosis families in Wales. 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