{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T14:45:51Z","timestamp":1746801951584,"version":"3.40.5"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Spanish Ministry of Health","award":["FIS 03\/821","CAM GR\/SAL 0340"],"award-info":[{"award-number":["FIS 03\/821","CAM GR\/SAL 0340"]}]},{"name":"Spanish Ministry of Health","award":["FIS 03\/821","CAM GR\/SAL 0340"],"award-info":[{"award-number":["FIS 03\/821","CAM GR\/SAL 0340"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Advances in Hematology"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>A Spanish male patient with<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mi>\u03b2<\/mml:mi><\/mml:math>-thalassaemia major was studied. Compound heterozygosity was found for one of the most common<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mi>\u03b2<\/mml:mi><\/mml:math>-globin gene mutations in the Spanish population (codon 39<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mtext>C<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>T<\/mml:mtext><\/mml:mrow><\/mml:math>) and for a mutation in the TATA box element of the<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mi>\u03b2<\/mml:mi><\/mml:math>-globin gene promoter (<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mo>\u2212<\/mml:mo><mml:mn>28<\/mml:mn><mml:mo>\u2009<\/mml:mo><mml:mtext>A<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>C<\/mml:mtext><\/mml:mrow><\/mml:math>mutation). To our knowledge this is the first report of a CD39<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mtext>C<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>T<\/mml:mtext><\/mml:mrow><\/mml:math>and<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mo>\u2212<\/mml:mo><mml:mn>28<\/mml:mn><mml:mo>\u2009<\/mml:mo><mml:mtext>A<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>C<\/mml:mtext><\/mml:mrow><\/mml:math>change association and the first report of the<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mrow><mml:mo>\u2212<\/mml:mo><mml:mn>28<\/mml:mn><mml:mo>\u2009<\/mml:mo><mml:mtext>A<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>C<\/mml:mtext><\/mml:mrow><\/mml:math>substitution in a Spanish patient.<\/jats:p>","DOI":"10.1155\/2009\/476342","type":"journal-article","created":{"date-parts":[[2009,7,28]],"date-time":"2009-07-28T15:02:32Z","timestamp":1248793352000},"page":"1-3","source":"Crossref","is-referenced-by-count":4,"title":["<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mi>\u03b2<\/mml:mi><\/mml:math>-Thalassaemia Major in a Spanish Patient due to a Compound Heterozygosity for CD39<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mtext>C<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>T<\/mml:mtext><\/mml:math>\/\u221228<mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\"><mml:mtext>A<\/mml:mtext><mml:mo>\u2192<\/mml:mo><mml:mtext>C<\/mml:mtext><\/mml:math>"],"prefix":"10.1155","volume":"2009","author":[{"given":"Soledad","family":"Gamarra","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Hematolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Public Health Research Institute, University of Medicine and Dentistry of New Jersey, 225 Warren Street, Room W210A, Newark, NJ 07103, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Garcia-Effron","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Hematolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"},{"name":"Public Health Research Institute, University of Medicine and Dentistry of New Jersey, 225 Warren Street, Room W210A, Newark, NJ 07103, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Monteserin","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario de Getafe, Carretera de Toledo s\/n, Getafe, 28901 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabel","family":"Lopez-Villar","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Servicio de Hematolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florinda","family":"Gilsanz","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaqu\u00edn","family":"Martinez-Lopez","sequence":"additional","affiliation":[{"name":"Servicio de Hematolog\u00eda, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"year":"2001","key":"1"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1080\/03630260701285050"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199706)55:2<83::AID-AJH6>3.0.CO;2-Z"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.10117"},{"issue":"4","key":"5","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1002\/(SICI)1096-8652(199712)56:4<239::AID-AJH7>3.0.CO;2-Y","volume":"56","year":"1997","journal-title":"American Journal of Hematology"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1179\/102453308X316031"},{"issue":"9","key":"7","doi-asserted-by":"crossref","first-page":"2054","DOI":"10.1182\/blood.V77.9.2054.2054","volume":"77","year":"1991","journal-title":"Blood"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-100105220"},{"issue":"20","key":"9","first-page":"789","volume":"113","year":"1999","journal-title":"Medicina Clinica"},{"issue":"11","key":"10","doi-asserted-by":"crossref","first-page":"5994","DOI":"10.1016\/S0021-9258(20)65092-X","volume":"257","year":"1982","journal-title":"The Journal of Biological Chemistry"},{"issue":"11","key":"11","doi-asserted-by":"crossref","first-page":"6507","DOI":"10.1016\/S0021-9258(18)88808-1","volume":"260","year":"1985","journal-title":"The Journal of Biological Chemistry"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03823.x"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1373\/49.5.769"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1159\/000086186"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.01870.x"},{"issue":"3","key":"16","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1007\/BF00220549","volume":"89","year":"1992","journal-title":"Human Genetics"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199603)51:3<240::AID-AJH11>3.0.CO;2-K"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-200058581"}],"container-title":["Advances in Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/ah\/2009\/476342.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ah\/2009\/476342.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/ah\/2009\/476342.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,9]],"date-time":"2021-10-09T04:19:30Z","timestamp":1633753170000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/ah\/2009\/476342\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":18,"alternative-id":["476342","476342"],"URL":"https:\/\/doi.org\/10.1155\/2009\/476342","relation":{},"ISSN":["1687-9104","1687-9112"],"issn-type":[{"type":"print","value":"1687-9104"},{"type":"electronic","value":"1687-9112"}],"subject":[],"published":{"date-parts":[[2009]]}}}