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遗传性红细胞丙酮酸激酶缺陷症的分子基础及诊断治疗相关问题 被引量:6

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作者 李津婴
出处 《中华血液学杂志》 CAS CSCD 北大核心 2004年第10期638-640,共3页 Chinese Journal of Hematology
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  • 1李津婴,许燕群,周虹,万树栋,王宁玲,于溪海.丙酮酸激酶低底物利用率在溶贫诊断中的意义[J].临床血液学杂志,1996,9(3):122-123. 被引量:3
  • 2[1]Lenzner C,Nurnberg P,Jacobasch G,et al.Molecular analysis of 29 pyruvate kinase deficient patients form Central Europe with hereditary hemolytic anemia[J].Blood,1997,89(5):1793-1799.
  • 3[2]Kanno H,Wei DC,Chan LC,et al.Hereditary hemolytic anemia caused by diverse point mutation of pyruvate kinase gene found in Japan and Hong Kong [J].Blood,1994,84(10):3505-3509.
  • 4[3]Wu ZL,Yu WD,Chen SC.Frequency of erythrocyte pyruvate kinase deficiency in Chinese infants[J].Am J Hematol,1985,20(2):139-144.
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  • 6[7]Lakomek M,Huppke P,Neubauer B,et al.Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency[J].Ann Hematol,1994,69(5):253-260.
  • 7[8]Demia A,Varughese KI,Barbot J,et al.Six previously undescribed pyruvate kinase mutations causing enzyme deficiency[J].Blood,1998,92(2):647-652.
  • 8[9]Baronciani L,Bianchi P,Zanella A.Hematologically important mutations:red cell pyruvate kinase(2nd update) [J].Blood Cells Mol Dis,1998,24(13):273-279.
  • 9[10]Solinge W,Kraaijenhagen R,Rijksen G,et al.Molecular modelling of human red blood cell pyruvate kinase:Structural implications of a novel G1091 to A mutation causing severe nonspherocytic hemolytic anemia[J].Blood,1997,90(12):4987-4995.
  • 10[11]Muirhead H,Clayden DA,Barford D,et al.The structure of cat muscle pyruvate kinase[J].EMBO J,1986,5(3):475-481.

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