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The fragment with an abnormal melting behaviour was reamplified and the base substitution in the polyadenylation sequence was identified by direct sequencing.<\/jats:p>","DOI":"10.1136\/jmg.28.4.252","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"252-255","source":"Crossref","is-referenced-by-count":19,"title":["Homozygous beta+ thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene."],"prefix":"10.1136","volume":"28","author":[{"given":"M","family":"Losekoot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Fodde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C L","family":"Harteveld","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"van Heeren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P C","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L N","family":"Went","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L F","family":"Bernini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1991,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1182\/blood.V72.4.1107.1107","article-title":"Molecular basis and prenatal diagnosis of, B-thalassaemia","volume":"72","author":"HH, Jr, Kazazian; CD, Boehm","year":"1988","unstructured":"Kazazian HH Jr, Boehm CD. 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BrJ Haematol 1990;76:269-74.","journal-title":"BrJ Haematol"},{"key":"ref_6","first-page":"627","article-title":"Linkage of,-thlassemia mutations and, B globin gene polymorphisms in human fI-globin gene cluster","volume":"2","author":"Orkin, S.H.; Kazazian, H.H.; Antonarakis, S.E.; Goff, S.E.; Boehm, C.D.","year":"1982","unstructured":"Orkin SH, Kazazian HH, Antonarakis SE, Goff SE, Boehm CD. Linkage of,-thlassemia mutations and,B globin gene polymorphisms in human fI-globin gene cluster. Na 1982;2f: 627-31.","journal-title":"Na"},{"key":"ref_7","first-page":"291522","article-title":"acaused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end prssing in the human a2 globin gene","volume":"5","author":"Whitelaw, E.; Proudfoot, N.","year":"1986","unstructured":"Whitelaw E, Proudfoot N. acaused by a poly(A) site mutation reveals that transcriptional termination is linked to 3' end prssing in the human a2 globin gene. EMBO 1986;5:291522.","journal-title":"EMBO"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.4.252","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:19:29Z","timestamp":1760728769000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.4.252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,4]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1991,4,1]]},"published-print":{"date-parts":[[1991,4]]}},"alternative-id":["10.1136\/jmg.28.4.252"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.4.252","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1991,4]]}}}