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先天性凝血酶原缺乏症1例 被引量:2

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出处 《临床血液学杂志》 CAS 2002年第3期142-142,共1页 Journal of Clinical Hematology
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  • 1Degen SJ, Davie EW. Nucleotide sequence of the gene for human prothrombin. Biochemistry, 1987, 26: 6165-6177.
  • 2Akhavan S, Luciani M, Lavoretano S, et al. Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia.Br J Haetnatol, 2003, 120: 142-144.
  • 3Sun WY, Ruiz-Saez A, Bttrkart MC, et al. Prothrombin carom: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys. Br J Haematol, 1999, 105 : 670-672.
  • 4Akhavan S, Mannucci PM, Lak M, et al. Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. Thromb Haemost, 2000, 84: 989-997.
  • 5Poort SR, Landohq R, Bertina RM. Compound heterozygosity for two novel missense mutations in the prothrombin gene in a patient with a severe bleeding tendency. Thromb Haemost, 1997, 77: 610-615.
  • 6Strijks E, Poort SR, Renier WO, et al. Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. Neuropediatrics,1999, 30: 320-324.

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