Molecular Biology of Hemophilia B

• References

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• 10a Ibid. 1992; 20: 2027-2063
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• 18 Ware J, Diuguid Q, Liebman HA, Rabiel MJ, Kasper CK, Furic BC, Furie B, Stafford DW. Factor IX San Dimas: Substitution of a glutaminc for Arg⁴ in the propeptide leads to incomplete carboxylation and altered phospholipid binding properties. J Biol Chem 1989; 264: 11401-11406
• 19 Diuguid DL, Rabict MJ, Furic BC, Liebman HA, Furie B. Molecular basis of hemophilia B: A defective enzyme due to an unprocessed propeptide caused by a point mutation in the factor IX precursor. Proc Natl Acad Sci USA 1986; 83: 5803-5807
• 20 Wu SM, Soutc BAM, Vermeer C, Stafford DW. In vitro γ-carboxylation of a 59-residue recombinant peptide including the propeptide and γ-carboxyglutamic acid domain of coagulation factor IX. J Biol Chem 1990; 265: 13124-13129
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• 22 Wolberg A, Cheung WF, Stafford DW, Hamaguchi N. Characterization of the functional roles of γ-carboxyglulamic acid (Gla) residues 20 and 21 in human factor IX. Thromb Hemosias 69 (abstr).
• 23 Toomey JR, Smith KJ, Roberts HR, Stafford DW. The endothelial cell binding determinant of haman factor IX resides in the γ-carboxyglutamic acid domain. Biochemistry 1992; 31: 1806-1808
• 24 Cheung WF, Hamaguchi N, Smith KJ, Stafford DW. The binding of human factor IX to endothelial cells is mediated bv residues 3-11. J Biol Chem 1992; 20529-20631
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• 28 Noyes CM, Griffith MJ, Roberts HR, Lundblad RL. Identification of the molecular defect in factor IX Chapel Hill. Substitution of a histidinc for arginine at position 145. Proc Natl Acad Sci USA 1983; 80: 4200-4202
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• 32 Østerud B, Kasper CK, Lavine KK, Prodranos C, Rapaport SI. Purification and properties of an abnormal blood coagulation factor IX (factor IX Bm) Kinetics of its inhibition of factor VII by bovine lissue factor. Thromb Haemostas 1981; 45: 55-59
• 33 Usharani P, Warn-Carmer J, Kasper CK, Bajaj SP. Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach and Los Angeles) of hemophilia B. J Clin Invest 1985; 75: 76-83
• 34 Huang MN, Kasper CK, Roberts HR, Stafford DW, High KA. Molecular defect in factor IX Hilo, a hemophilia Bm variant: Arg to Gin at the carboxy terminal cleavage site of the activation peptide. Blood 1989; 73: 718-722
• 35 Monroe DM, McCord DM, Huang MN, High KA, Lundblad RL, Kasper CK, Roberts HR. Functional consequences of an argininc 180 to glutamine mutation in factor IX Hilo. Blood 1989; 73: 1540-1544
• 36 Lefkowitz IB, Monroe DM, Kasper CK, Roberts HR. Comparison of the behavior of normal factor IX and the factor IX Bm variant Hilo in the prothrombin time lest using tissue factors from bovine, human, and rabbit sources. Am J Hematol. 1993 in press
• 37 Taylor SAM, Duffin J, Cameron C, Teitel J, Garvey B, Lillicrap DP. Characterization of the original Christmas disease mutation (cysteine 206→serine) from clinical recognition to molecular pathogenesis. Thromb Haemostas 1992; 67: 63-65
• 38 Monroe DM, Lefkowitz JB, Stormorken H, High KA, Roberts HR. Functional consequences of a valine 307 to alanine mutation in factor IX Sauda. Thromb Haemostas 1991; 65: 712 (abstr.).
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