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These findings underline the difficulties of family genetic studies and the need for tight relationship between professionals involved in laboratory studies and those in\u2010charge of the clinical follow\u2010up and genetic counselling. In this family, we also report a new silent \u03b2\u2010thalassemia mutation, \u2212102 (C&gt;A), in the distal CACCC box of the \u03b2\u2010globin gene promoter. Am. J. Hematol., 2007. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.21000","type":"journal-article","created":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T17:48:06Z","timestamp":1185817686000},"page":"1088-1090","source":"Crossref","is-referenced-by-count":8,"title":["A novel mutation of the \u03b2\u2010globin gene promoter (\u2212102 C&gt;A) and pitfalls in family screening"],"prefix":"10.1002","volume":"82","author":[{"given":"Patricia","family":"Aguilar\u2010Martinez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Jourdan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Brun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9verine","family":"Cunat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel","family":"Giansily\u2010Blaizot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Pissard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Schved","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,11]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.321.7269.1117"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196912112812403"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1990.tb06338.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1182\/blood.V73.6.1705.1705","article-title":"A C>T substitution at nt\u2013101 in a conserved DNA sequence of the promotor region of the beta\u2010globin gene is associated with \u201csilent\u201d beta\u2010thalassemia","volume":"73","author":"Gonzalez\u2010Redondo JM","year":"1989","journal-title":"Blood"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05146.x"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1054\/blre.2000.0128"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1999.01788.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380010310"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220475"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/17.6.2376"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295521"},{"key":"e_1_2_1_13_2","first-page":"344","article-title":"Dectection and characterization of beta\u2010globin cluster rearrangements using Quantitative Multiplex PCR of Short fluorescent Frangments (QMPSF)","volume":"73","author":"Pissard S","year":"2003","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10303"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10108"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V98.1.250"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb04639.x"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.21000","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.21000","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T11:03:10Z","timestamp":1700046190000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.21000"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11]]},"references-count":16,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["10.1002\/ajh.21000"],"URL":"https:\/\/doi.org\/10.1002\/ajh.21000","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11]]}}}