{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:45:12Z","timestamp":1761057912873},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,3,29]],"date-time":"2004-03-29T00:00:00Z","timestamp":1080518400000},"content-version":"vor","delay-in-days":88,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In Portugal there are a wide variety of G6PD deficiency associated mutations. In an individual from the island of Flores of the Azorean archipelago, we report a new mutation in the G6PD gene that gives rise to a \u201cmoderate rate of G6PD deficiency\u201d (12.6% of the normal activity) according to WHO criteria. Direct sequencing revealed a C\u2192A point mutation at position 1387 with the consequent substitution of an Argine by Serine. We designated this new mutation as G6PD FLORES. The mutation is associated with haplotype I ( \u2013 \u2013 + + \u2013 \u2013 ), using six intragenic RFLPs. This information may also be seen as contributing to the clarification of the genetic makeup of the Azorean population, founder mutations, and\/or gene flow. J. Clin. Lab. Anal. 18:129\u2013131, 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/jcla.20010","type":"journal-article","created":{"date-parts":[[2004,3,29]],"date-time":"2004-03-29T18:01:22Z","timestamp":1080583282000},"page":"129-131","source":"Crossref","is-referenced-by-count":3,"title":["Novel point mutation in exon 12 of the glucose\u20106\u2010 Phosphate Dehydrogenase Gene: G6PD Flores"],"prefix":"10.1002","volume":"18","author":[{"given":"Maria\u2010Odete","family":"Rodrigues","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00falia Dias","family":"Pereira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela","family":"Gaspar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Olim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria\u2010do\u2010Carmo","family":"Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carolino","family":"Monteiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,3,29]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"30","article-title":"Standardization of procedures for the study of glucose\u20106\u2010phosphate dehydrogenase","volume":"366","author":"Betke K","year":"1967","journal-title":"World Health Oran Tech Rep Ser"},{"key":"e_1_2_1_3_2","first-page":"137","article-title":"The genetics of glucose\u20106\u2010phosphate dehydrogenase deficiency","volume":"27","author":"Beutler E","year":"1990","journal-title":"Semin Hematol"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020302"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10036"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(92)90372-B"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.3.235"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2002.0505"},{"key":"e_1_2_1_9_2","first-page":"166","volume-title":"Red cell metabolism","author":"Beutler E","year":"1984"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjcla.20010","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.20010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T16:22:12Z","timestamp":1700238132000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.20010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,1]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,1]]}},"alternative-id":["10.1002\/jcla.20010"],"URL":"https:\/\/doi.org\/10.1002\/jcla.20010","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,1]]}}}