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我国G6PD缺乏症基因突变的研究现状 被引量:64

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作者 徐芸 罗建明
出处 《中国小儿血液与肿瘤杂志》 CAS 2009年第3期143-144,F0003,共3页 Journal of China Pediatric Blood and Cancer
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参考文献17

  • 1罗建明,李慕军,唐霞,梁徐.变性高效液相联合测序及酶切检测广西葡萄糖-6-磷酸脱氢酶缺乏症的基因型[J].中华血液学杂志,2005,26(10):607-611. 被引量:18
  • 2Chao,L.,Du,C.S.,Louie,E.,et al.A to G substitution identified in exon 2 of the G6PD gene among G6PD deficient Chinese.Nucleic Acids Res,1991;19:6056. 被引量:1
  • 3Tizhen Yan,Ren Cai,OiuHua Mo,et al.Incidence and complete molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Guangxi Zhuang autonomous region of southern China:description of four novel mutations[J].Haematologica,2006;91:1321-1328. 被引量:1
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  • 5Tang K.Tang,Ching-Shan Huang,et al.Diverse Point Mutations Result in Glucose-6-Phosphate Dehydrogenase (G6PD) Polymorphism in Taiwan.Blood,1992;79(8):2135-2140. 被引量:1
  • 6Chen,H.L.,Huang,M.J.,Huang,C.S.,and Tang,T.K.G6PD NanKang(517T-C; 173 Phe-Leu):A new Chinese G6PD variant associated with neonatal jaundice.Hum.Hered,1996;46:201-204. 被引量:1
  • 7Tang,T.K.,Chen,H.L.,Tzou,W.S.,and Huang,M.J.Structural and functional analysis of Chinese G6PD mutations on the basis of a three dimensional structural model of human enzyme.Blood,1996;88(Suppl.1):307a. 被引量:1
  • 8Beutler,E.,and Kuhl,W.The NT1311 polymorphism of G6PD:G6PD Mediter-ranean mutation may have originated independently in Europe and Asia.Am.J.Hum.Genet.,1990;47:1008-1012. 被引量:1
  • 9Du,C.S.,Chao,L.T.,Louie,E.,et al.Molecular characterization of G6PD deficiency in patients of Chinese descent and identification of a new base substitution in the human G6PD gene.Blood,1992;80(Suppl.1):284a. 被引量:1
  • 10蔡望伟,Stefania Filosa,Giuseppe Martini,周玉英,周代锋,蔡兰洁,邝宇.海南汉族、黎族人葡萄糖-6-磷酸脱氢酶缺乏症的基因突变型分析及一种新的G6PD基因突变型的鉴定[J].中华医学遗传学杂志,2001,18(2):105-109. 被引量:24

二级参考文献26

  • 1蔡望伟,周代锋,蔡兰洁,邝宇,周玉英,Filosa Stefania,Martini Giuseppe.一种新的G6PD基因突变型的鉴定[J].海南医学院学报,2003,9(1):1-3. 被引量:2
  • 2杜传书,王菁.中国人中所见的六种葡糖6—磷酸脱氢酶基因的点突变[J].中华血液学杂志,1993,14(8):395-398. 被引量:44
  • 3杨明,杜传书.贵州省黔西县葡糖-6-磷酸脱氢酶基因突变型研究[J].中华血液学杂志,1996,17(4):188-191. 被引量:24
  • 4杜传书 芮琳.红细胞葡萄糖—6—磷酸脱氢酶活性四氮唑蓝定量测定法[J].中华血液学杂志,1981,2:188-188. 被引量:3
  • 5Pai GS, Sprenkle JA, Do TT, et al. Localization of loci for hypoxanthine phosphoribosyl transferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation. Proc 被引量:1
  • 6Scriver CR, Beaudet ET, Sly WS, et al. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill,2001. 4517-4552. 被引量:1
  • 7de Vita G,Alcalay M,Sampietro M,et al. Two point mutations responsible for G6PD polymorphism in Sardinia.Am J Hum Genet,1989,44:233-240. 被引量:1
  • 8Mortazavi Y, Chorpa R, Gordon-Smith EC, et al. Frequency of the G6PD ntl311C/T polymorphism in English and Indian population:relevance to studies of X chromosome inactivation. J Med Genet,1997,34:1028-1029. 被引量:1
  • 9Huang CS, Hung KL, Huang MJ, et al. Neonatal jaundice and molecular mutations in glucose-6-phosphate dehydrogenase deficient newborn infants. Am J Hematol, 1996, 51:19-25. 被引量:1
  • 10Nuchprayoon I, Sanpavat S, Nuchprayoon S. Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G→ A) is the most common deficiency variant in the Thai population. Hum Mutat, 2002, 19:185-190. 被引量:1

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