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遗传性凝血因子Ⅶ缺乏一例 被引量:2

Hereditary coagulation factor Ⅶ deficiency in a case
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出处 《中华儿科杂志》 CAS CSCD 北大核心 2005年第1期34-34,共1页 Chinese Journal of Pediatrics
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  • 1Takamiya O, Seta M, Tanaka K, et al. Human factor Ⅶ deficiency caused by S339C mutation located adjacent to thespecificity pocket of the catalytic domain [J]. Clin and Lab Haem,2002,24(4) :233-238.
  • 2王淑娟,吴振茹,王建中.先天性凝血Ⅶ因子缺乏症一例报告[J].北京医科大学学报,1997,29(5):478-478. 被引量:2

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  • 1Alexander B, Goldstein R, Landwehr G, et al. CongenitalSPCA deficiency - a hitherto unrecognized coagulation defect with hemorrhage rectified by serum and serum fractions [J]. J Clin Invest, 195 I, 30(6): 596-608.
  • 2Lee WS, Park YS. A case of intracranial hemorrhage in a neo- nate with congenital factor VII deficiency [J]. Korean J Pedi- atr,2010,53(10): 913-916.
  • 3Landau D, Rosenberg N, Zivelin A, et al. Familial factor VII deficiency with foetal and neonatal fatal cerebral haemor- rhage associated with homozygosis to Glyl80Arg mutation [J]. Haemophilia, 2009, 15(3): 774-778.
  • 4Lee JH, Lee HJ, Bin JH, et aL A novel homozygous mis- sense mutation in the factor VII gene of severe factor VII de- ficiency in a newborn baby [J]. Blood Coagul Fibrinolysis, 2009,20(2): 161-164.
  • 5Hewitt J, Ballard JN, Nelson TN, et aL Severe FVII deficien- cy caused by a new point mutation combined with a previous- ly undetected gene deletion [J]. Br J Haematol, 2005,128(3): 380-385.
  • 6Giansily-Blaizot M, Aguilar-Martinez P, Briquel ME, et al. Two novel cases of cerebral haemorrhages at the neonatal pe- riod associated with inherited factor VII deficiency, one of them revealing a new nonsense mutation (Ser52Stop) [J]. Blood Coagul Fibrinolysis, 2003,14(2): 217-220.
  • 7Gomez K, Laffan MA, Kemball-Cook G, et al. Two novel mutations in severe factor VII deficiency [J]. Br J Haematol, 2004, 126(1): 105-110.
  • 8O'Hara PJ, Grant FJ, Haldeman BA, et al. Nucleotide se- quence of the gene coding for human factor VII, a vitamin K-dependent protein participating in blood coagulation [J]. Proc Natl Acad Sci U S A, 1987,84(15): 5158-5162.
  • 9McVey JH, Boswell E, Mumford AD, et al. Factor VII defi- ciency and the FVII mutation database [J]. Hum Mutat, 2001,17(1)..3-17.
  • 10Herrmann FH, Wulff K, Auerswald G, et al. Factor VII defi- ciency, clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene [J]. Haemophilia, 2009,15(1) : 267-280.

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