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The method has been validated on a large number of samples for the two most common mutations causing beta\u2010thalassemia in the Mediterranean area (IVSI.110 and cd39). The development of a high\u2010throughput, fast and reliable method to assay beta\u2010thalassemia mutations represents a significant improvement in molecular diagnosis of this disease. The multicolour detection and the use of multiple injections further enhances the throughput of mutational screening by the DNA sequencer and facilitates automated genotyping for routine molecular diagnostics.<\/jats:p>","DOI":"10.1002\/elps.200700181","type":"journal-article","created":{"date-parts":[[2007,11,26]],"date-time":"2007-11-26T10:17:29Z","timestamp":1196072249000},"page":"4289-4294","source":"Crossref","is-referenced-by-count":6,"title":["High\u2010throughput mutational screening for beta\u2010thalassemia by single\u2010nucleotide extension"],"prefix":"10.1002","volume":"28","author":[{"given":"Silvia","family":"Galbiati","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcella","family":"Chiari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micol","family":"Macellari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Ferrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Cremonesi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Cretich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,11,26]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrfmmm.2004.09.017"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/elps.200406161"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac0258094"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(90)90255-S"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-I"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/mcpr.1995.0027"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9673(97)00637-7"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.0902-4441.2003.00186.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1522-2683(19990101)20:6<1258::AID-ELPS1258>3.0.CO;2-V"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac049264k"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac000912j"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac0512047"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000397"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-022X(00)00156-1"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<1::AID-HUMU1>3.0.CO;2-I"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20162"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac020624i"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20225"}],"container-title":["ELECTROPHORESIS"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Felps.200700181","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/elps.200700181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T11:04:00Z","timestamp":1760526240000},"score":1,"resource":{"primary":{"URL":"https:\/\/analyticalsciencejournals.onlinelibrary.wiley.com\/doi\/10.1002\/elps.200700181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,26]]},"references-count":18,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1002\/elps.200700181"],"URL":"https:\/\/doi.org\/10.1002\/elps.200700181","archive":["Portico"],"relation":{},"ISSN":["0173-0835","1522-2683"],"issn-type":[{"type":"print","value":"0173-0835"},{"type":"electronic","value":"1522-2683"}],"subject":[],"published":{"date-parts":[[2007,11,26]]}}}