Page 2171 - Williams Hematology ( PDFDrive )

2146 Part XII: Hemostasis and Thrombosis Chapter 124: Inherited Deficiencies of Coagulation Factors II, V, V+VIII, VII, X, XI, and XIII 2147

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of fibronectin, von Willebrand factor, free protein S and antithrombin during third- tion of purified platelet-derived factor V/Va. J Biol Chem 279:2383, 2004.
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12:141, 1981. V to chromosome 1q21–25. Genomics 2:324, 1988.
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bonucleic acid and gene coding for human prothrombin. Biochemistry 22:2087, 1983. lation factor V gene is a frequent cause of factor V deficiency in the Italian population.
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52. Kim SR, Chung ES, Bok E, et al: Prothrombin kringle-2 induces death of mesence- domain of factor V causing moderately severe factor V deficiency: Molecular charac-
phalic dopaminergic neurons in vivo and in vitro via microglial activation. J Neurosci terization by expression of the recombinant protein. Blood 101:173, 2003.
Res 88:1537, 2010. 89. Montefusco MC, Duga S, Asselta R, et al: Clinical and molecular characterization of 6
53. Bode W, Mayr I, Baumann U, et al: The refined 1.9 A crystal structure of human patients affected by severe deficiency of coagulation factor V: Broadening of the muta-
α-thrombin interaction with D-Phe-Pro-Arg chloromethylketone and significance of tional spectrum of factor V gene and in vitro analysis of the newly identified missense
the Tyr-Pro-Pro-Trp insertion segment. EMBO J 8:3467, 1989. mutations. Blood 102:3210, 2003.
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55. Lee H, Hamilton JR: Physiology, pharmacology, and therapeutic potential of pro- for human blood coagulation factor V associated with type I factor V deficiency. Blood
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J Thromb Haemost 3:1800, 2005. sense mutation in exon 13, of the factor V gene with the homozygous Leiden mutation
57. Lane DA, Phillipu H, Huntington JA: Directing thrombin. Blood 106:2605, 2005. in two unrelated patients with severe factor V deficiency. Br J Haematol 114:871, 2001.
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ceruloplasmin map to 11p11-q12, and 3q21–24, respectively. Somat Cell Mol Genet caused by a 4 bp deletion in the factor V gene. Br J Haematol 101:32, 1998.
13:285, 1987. 93. Dahlbäck B, Villoutreix BO: Molecular recognition in the protein C anticoagulant path-
59. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM: A common genetic variation in way. J Thromb Haemost 1:1525, 2003.
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with congenital absence of prothrombin activity: Case report. Am J Perinatol 14:135, to two unrelated kindreds. Thromb Haemost 75:422, 1996.
1997. 95. Lunghi B, Iacoviello L, Gemmati D, et al: Detection of new polymorphic markers in the
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