{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:10:02Z","timestamp":1760771402065,"version":"build-2065373602"},"reference-count":17,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,2]]},"abstract":"<jats:p>In this study we have characterised by oligonucleotide hybridisation and direct restriction endonuclease analysis the beta thalassaemia mutation in 494 Sardinian beta thalassaemia heterozygotes. The most prevalent mutation, accounting for 95.4% of the cases, was the nonsense mutation at codon 39. The remainder, in decreasing order of frequency, were a frameshift at codon 6 (2.2%), beta + IVS-1, nt 110 (0.4%), and beta + IVS-2, nt 745 (0.4%). This information allows prenatal diagnosis by DNA analysis to be made in the great majority of Sardinian couples at risk for beta thalassaemia.<\/jats:p>","DOI":"10.1136\/jmg.24.2.97","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"97-100","source":"Crossref","is-referenced-by-count":33,"title":["Beta thalassaemia mutations in Sardinians: implications for prenatal diagnosis."],"prefix":"10.1136","volume":"24","author":[{"given":"C","family":"Rosatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G B","family":"Leoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Tuveri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M T","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Di Tucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,2,1]]},"reference":[{"key":"ref_1","first-page":"11","article-title":"l3\u00b0-thalassaemia in Sardinia is causcd by a nonsense mutation","volume":"68","author":"Trecartin, R.F.; Liebhaber, S.A.; Chang, J.C.","year":"1981","unstructured":"Trecartin RF, Liebhaber SA, Chang JC. et al. l3\u00b0-thalassaemia in Sardinia is causcd by a nonsense mutation. 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