{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:04:03Z","timestamp":1761059043355},"reference-count":18,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2010,4,19]],"date-time":"2010-04-19T00:00:00Z","timestamp":1271635200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2010,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hereditary deficiency in human glucose\u20106\u2010phosphate dehydrogenase (G6PD) is mostly caused by single nucleotide change in the G6PD gene which leads to single amino acid substitution. In 104 cases of Chinese children with G6PD deficiency, RT\u2010PCR\u2010DGGE (denaturing gradient gel electrophoresis) combined with DNA sequencing was carried out to screen the mutations within the coding region of G6PD gene. A novel missense mutation (G473A), predicting a Cys\u2010to\u2010Tyr substitution at codon 158, was identified in a male infant patient and confirmed in his mother. This G6PD variant (158 Tyr) showed decreased enzyme activity, belonging to WHO Class II. We designated this variant as G6PD <jats:italic>Shenzhen<\/jats:italic> by the birthplace of the propositus. Pediatr Blood Cancer. 2010;55:383\u2013385. \u00a9 2010 Wiley\u2013Liss, Inc.<\/jats:p>","DOI":"10.1002\/pbc.22517","type":"journal-article","created":{"date-parts":[[2010,4,19]],"date-time":"2010-04-19T17:52:38Z","timestamp":1271699558000},"page":"383-385","source":"Crossref","is-referenced-by-count":6,"title":["A novel G473A mutation in the glucose\u20106\u2010phosphate dehydrogenase gene"],"prefix":"10.1002","volume":"55","author":[{"given":"Xiaowen","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijie","family":"Yue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chengrong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changgang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,6,25]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1006\/rwgn.2001.1520"},{"key":"e_1_2_5_3_2","first-page":"1277","article-title":"Diagnosis and management of G6PD deficiency","volume":"72","author":"Frank JE","year":"2005","journal-title":"Am Fam Physician"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1107\/S0907444905002350"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60073-2"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2007.05.002"},{"key":"e_1_2_5_7_2","first-page":"174","article-title":"Studies on glucose\u20106\u2010phosphate dehydrogenase (G6PD) deficiency in China: Forty years retrospection and perspective","volume":"21","author":"Du C","year":"2000","journal-title":"Zhonghua Xue Ye Xue Za Zhi"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0126-5"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/21.9.2261"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20340"},{"key":"e_1_2_5_11_2","first-page":"1","article-title":"Detection of glucose\u20106\u2010phosphate dehydrogenase in erythrocytes: Method G6PD\/6PGD ratio","volume":"4","author":"Du C","year":"1991","journal-title":"Chin J Birth Health Hered"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.23.5432"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/27.20.e29"},{"key":"e_1_2_5_14_2","first-page":"1","article-title":"Standardization of procedures for the study of glucose\u20106\u2010phosphate dehydrogenase, Report of a WHO Scientific Group","volume":"366","author":"WHO Scientific Groups","year":"1967","journal-title":"WHO Tech Rep Ser"},{"key":"e_1_2_5_15_2","first-page":"601","article-title":"Glucose\u20106\u2010phosphate dehydrogenase deficiency","volume":"67","author":"WHO Working Group","year":"1989","journal-title":"Bull WHO"},{"key":"e_1_2_5_16_2","first-page":"191","article-title":"Detection of three common G6PD gene point mutations in Guangdong province by using ARMS","volume":"20","author":"Du C","year":"1999","journal-title":"Chin J Hematol"},{"key":"e_1_2_5_17_2","first-page":"509","article-title":"The preliminary study on the gene mutation of sixty patients with G6PD deficiency in Yunnan province","volume":"21","author":"Yang Z","year":"2000","journal-title":"Chin J Hematol"},{"key":"e_1_2_5_18_2","first-page":"607","article-title":"Denaturing high performance liquid chromatography technique platform applied to screen G6PD deficient variants","volume":"22","author":"Jiang W","year":"2005","journal-title":"Chin J Med Genet"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0969-2126(00)00104-0"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpbc.22517","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.22517","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:27:36Z","timestamp":1700569656000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.22517"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,25]]},"references-count":18,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,8]]}},"alternative-id":["10.1002\/pbc.22517"],"URL":"https:\/\/doi.org\/10.1002\/pbc.22517","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,25]]}}}