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Thromb Haemost 1997; 78(01): 151-160
DOI: 10.1055/s-0038-1657519
DOI: 10.1055/s-0038-1657519
Molecular defects in rare bleeding disorders
Inherited Factor VII Deficiency: Molecular Genetics and Pathophysiology
David N Cooper
1
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff
,
David S Millar
1
Institute of Medical Genetics, University of Wales College of Medicine, Heath Park, Cardiff
,
Adam Wacey
2
Thrombosis Research Institute, Manresa Road, London
,
David W Banner
3
Pharmaceuticals Division, F. Hoffmann-La Roche Ltd, Basel, Switzerland
,
Edward G D Tuddenham
4
Haemostasis Research Group, Clinical Sciences Centre, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK
› Author Affiliations
Further Information
Publication History
Publication Date:
12 July 2018 (online)
-
References
- 1 Toomey JR, Kratzer KE, Lasky NM, Stanton JJ, Broze GJ. Targeted disruption of the murine tissue factor gene results in embryonic lethality. Blood 1996; 88: 1583-1587
- 2 Morrissey JH, Macik BG, Neuenschwander PF, Comp PC. Quantitation of activated factor VII levels in plasma using a tissue factor mutant selectively deficient in promoting factor VII activation. Blood 1993; 81: 734-744
- 3 Wildgoose P, Nemerson Y, Hansen LL, Nielsen FE, Glazer S, Hedner U. Measurement of basal levels of factor VIIa in haemophilia A and B patients. Blood 1992; 80: 25-28
- 4 Meade TW. Factor VII and ischaemic heart disease: epidemiologic evidence. Haemostasis 1983; 13: 178-185
- 5 Meade TW, Mellows S, Brozovic M, Miller GJ, Chakrabarti RR, North WRS, Haines AP, Stirling Y, Imeson JD, Thompson SG. Haemostatic function and ischaemic heart disease: principal results of the Northwick Park Heart Study. Lancet 1986; 02: 533-537
- 6 Ragni MV, Lewis JH, Spero JA, Hasiba U. Factor VII deficiency. Am J Hematol 1981; 10: 79-88
- 7 Mariani G, Mazzucconi MG, Hermans J, Ciavarella N, Faiella A, Hassan HJ, Mannucci PM, Nenci GG, Orlando M, Romoli D, Mandelli F. Factor VII deficiency: immunological characterization of genetic variants and detection of carriers. Br J Haematol 1981; 48: 07-14
- 8 Triplett DA, Brandt JT, Batard MA, Dixon JS, Fair DS. Hereditary factor VII deficiency: heterogeneity defined by combined functional and immunochemical analysis. Blood 1985; 66: 1284-1287
- 9 Tuddenham EGD, Cooper DN. The Molecular Genetics of Haemostasis and its Inherited Disorders. Oxford University Press; Oxford: 1994
- 10 Goodnough LT, Saito H, Ratnoff OD. Thrombosis or myocardial infarction in congenital clotting factor abnormalities. Medicine 1983; 62: 248-255
- 11 Tuddenham EGD, Pemberton S, Cooper DN. Inherited factor VII deficiency: genetics and molecular pathology. Thromb Haemost 1995; 74: 313-321
- 12 Wion KL, Kelly D, Summerfield JA, Tuddenham EGD, Lawn RM. Distribution of factor VIII mRNA and antigen in human liver and other tissues. Nature 1985; 317: 726-729
- 13 Fair DS. Quantitation of factor VII in the plasma of normal and warfarin-treated individuals by radioimmunoassay. Blood 1983; 62: 784-791
- 14 Persson E, Nielsen LS. Site-directed mutagenesis but not g-carboxylation of Glu-35 in factor Vila affects the association with tissue factor. FEBS Letts 1996; 385: 241-243
- 15 Banner DW, D’Arcy A, Chene C, Winkler FK, Guha A, Konigsberg WH, Nemerson Y, Kirchhofer D. The crystal structure oflhe complex of blood coagulation factor Vila with soluble tissue factor. Nature 1996; 380: 41-46
- 16 Butenas S, Mann KG. Kinetics of human factor VII activation. Biochemistry 1996; 35: 1904-1910
- 17 Iwanaga S, Nishimura H, Kawabata S, Kisiel W, Hase S, Ikenaka T. A new trisaccharide sugar chain linked to a serine residue in the first EGF-like domain of clotting factors VII and IX and protein Z. Adv Exp Med Biol 1990; 281: 121-131
- 18 Bjoern S, Foster DC, Thim L, Wiberg FC, Christensen M, Komiyama Y, Pedersen AH, Kisiel W. Human plasma and recombinant factor VII. Characterization of O-glycosylations at serine residues 52 and 60 and effects of site-directed mutagenesis of serine 52 to alanine. J Biol Chem 1991; 266: 11051-11057
- 19 Thim L, Bjoern S, Christensen M, Nicolaisen EM, Lund-Hansen T, Pedersen AH, Hedner U. Amino acid sequence and posttranslational modifications of human factor Vila from plasma and transfected baby hamster kidney cells. Biochemistry 1988; 27: 7785-7793
- 20 Nemerson Y. Tissue factor and hemostasis. Blood 1988; 71: 01-08
- 21 Wildgoose P, Berkner KL, Kisiel W. Synthesis, purification and characterization of an Argl52->Gln site directed mutant of recombinant human blood clotting factor VII. Biochemistry 1990; 29: 3413-3420
- 22 Komiyama Y, Pedersen AH, Kisiel W. Proteolytic activation of human factors IX and X by recombinant human factor Vila: effects of calcium, phospholipids and tissue factor. Biochemistry 1990; 29: 9418-9425
- 23 Repke K, Gemmell CH, Guha A, Turitto VT, Broze GJ, Nemerson Y. Hemophilia as a defect of the tissue factor pathway of blood coagulation. Effect of factors VIII and IX on factor X activation in a continuous flow reactor. Proc Natl Acad Sci USA 1990; 87: 7623-7627
- 24 Eichinger S, Mannucci PM, Tradati F, Arbini AA, Rosenberg RD, Bauer KA. Determinants of plasma factor Vila levels in humans. Blood 1995; 86: 3021-3025
- 25 Butenas S, Mann KG. Kinetics of human factor VII activation-(Biochemistry. 1996; 35: 1904-1910
- 26 Rao LV, Williams T, Rapaport SI. Studies of the activation of factor VII bound to tissue factor. Blood 1996; 87: 3738-3748
- 27 Harlos K, Martin DMA, O’Brien DP, Jones EY, Stuart DI, Polikarpov I, Miller A, Tuddenham EGD, Boys CWG. Crystal structure of the extracellular region of human tissue factor. Nature 1994; 370: 662-666
- 28 Muller YA, Ultsch MH, Kelley RF, de VosAM. Structure of the extracellular domain of human tisue factor: location of the factor Vila binding site. Biochemistry 1994; 33: 10864-10870
- 29 Ruf W, Schullek JR, Stone MJ, Edgington TS. Mutational mapping of functional residues in tissue factor: identification of factor VII recognition determinants in both structural modules of the predicted cytokine receptor homology domain. Biochemistry 1994; 33: 1565-1572
- 30 Gibbs CS, McCurdy SN, Leung LLK, Paborsky LR. Identification of the factor Vila binding site on tissue factor by homologous loop swap and alanine scanning mutagenesis. Biochemistry 1994; 33: 14003-14010
- 31 Dickinson CD, Kelly CR, Ruf W. Identification of surface residues mediating tissue factor binding and catalytic function of the serine protease factor Vila. Proc Natl Acad ci USA 1996; 93: 14379-14384
- 32 Chang JY, Stafford DW, Straight DL. The roles of factor VII’s structural domains in tissue factor binding. Biochemistry 1995; 34: 12227-12232
- 33 McCallum CD, Hapak RC, Neuenschwander PF, Morrissey JH, Johnson AE. The location of the active site of blood coagulation factor Vila above the membrane surface and its reorientation upon association with tissue factor. Biol. Chem 1996; 271: 28168-28175
- 34 Hagen FS, Gray CL, O’Hara P, Grant FJ, Saari GC, Woodbury RG, Hart CE, Insley M, Kisiel W, Kurachi K, Davie EW. Characterization of a cDN A coding for human factor VII. Proc. Natl Acad Sci USA 1986; 83: 2412-2416
- 35 O’Hara PJ, Grant FJ, Haldeman BA, Gray CL, Insley MY, Hagen FS, Murray MJ. Nucleotide sequence of the gene coding for human factor VII a vitamin K-dependent protein participating in blood coagulation. Proc. Natl Acad Sci USA 1987; 84: 5158-5162
- 36 Miao CH, Leytus SP, Chung DW, Davie EW. Liver-specific expression of the gene coding for human factor Xa blood coagulation factor. J Biol Chem 1992; 267: 7395-7401
- 37 Berkner K, Busby S, Davie E, Hart C, Insley M, Kisiel W, Kumar A, Murray M, O’Hara P, Woodbury R, Hagen F. Isolation and expression of cDNAs encoding human factor VII. Cold Spring Harb. Symp Quant Biol 1986; 51: 531-541
- 38 Millar DS. unpublished results
- 39 Brothers AB, Clarke BJ, Sheffield WP, Blajchman MA. Complete nucleotide sequence of the cDNA encoding rabbit coagulation factor VII. Thromb Res 1993; 69: 231-238
- 40 Idusogie E, Rosen E, Geng J-P, Carmeliet P, Collen D, Castellino FJ. Characterization of a cDNA encoding murine coagulation factor VII. Thromb Haemost 1996; 75: 481-487
- 41 Murakawa M, Okamura T, Kamura T, Kuroiwa M, Harada M, Niho Y. Analysis of the partial nucleotide sequences and deuced primary structures of the protease domains of mammalian blood coagulation factors VII and X. Eur.J. Haematol 1994; 52: 162-168
- 42 Idusogie E, Rosen ED, Carmeliet P, Collen D, Castellino FJ. Nucleotide structure and characterization of the murine blood coagulation factor VII gene. Thromb Haemost 199; 76: 957-964
- 43 Howard PR, Bovill EG, Pike J, Church WR, Tracy RP. Factor VII antigen levels in a healthy blood donor population. Thromb. Haemost 1994; 72: 21-27
- 44 Scarabin P-Y, Vissac A-M, Kirzin J-M, Bourgeat P, Amiral J, Agher R, Guize L. Population correlates of coagulation factor VII. Arteriosler. Thromb Vase Biol 1996; 16: 1170-1176
- 45 Green F, Kelleher C, Wilkes H, Temple A, Meade T, Humphries S. A common genetic polymorphism associated with lower coagulation factor VII levels in healthy individuals. Arterioscl. Thromb 1991; 11: 540-546
- 46 Lane A, Cruikshank JK, Stewart J, Henderson A, Humphries S, Green F. Genetic and environmental determinants of factorVII coagulant activity in different ethnic groups at differing risk of coronary heart disease. Atherosclerosis 1992; 94: 43-50
- 47 Humphries SE, Lane A, Green FR, Cooper J, Miller GJ. Factor VII coagulant activity and antigen levels in healthy men are determined by interaction between factor VII genotype and plasma triglyceride concentration. Arterioscl. Thromb 1994; 14: 193-198
- 48 Silveria A, Green F, Karpe F, BlombÑck M, Humphries S, Hamsten A. Elevated levels of factor VII activity in the postprandial state: effect of the factor VII Arg-Gln polymorphism. Thromb. Haemost 1994; 72: 734-739
- 49 Lane A, Green F, Humphries S, Ruddock V, Meade T. Effect of factor VII genotype on response to warfarin treatment. Thromb. Haemost 1995; 73: 325
- 50 Meilahn E, Ferrell R, Kiss J, Temple A, Green F, Humphries S, Kuller L. Genetic determination of coagulation factor VII c levels among healthy middle-aged women. Thromb. Haemost 1995; 73: 623-625
- 51 Lane A, Green F, Scarabin PY, Nicaud V, Bara L, Humphries S, Evans A, Luc G, Cambou JP, Arveiler D, Cambien F. The factor VII Arg/Gln353 polymorphism determines factor VII coagulant activity in patients with myocardial infarction (MI) and control subjects in Belfast and in France but is not a strong indicator of MI risk in the ECTIM study. Atherosclerosis 1996; 119: 119-127
- 52 Kario K, Narita N, Matsuo T, Kayaba K, Tsutsumi A, Matsuo M, Miyata T, Shimada K. Genetic determinants of plasma factor VII activity in the Japanese. Thromb. Haemost 1995; 73: 617-622
- 53 Heywood DM, Ossei-Geming N, Grant PJ. Association of factor VII:C levels with environmental and genetic factors in patients with ischaemic heart disease and coronary atheroma characterized by angiography. Thromb. Haemost 1996; 76: 161-165
- 54 Saha N, Liu Y, Heng CK, Hong S, Low PS, Tay JS. Association of factor VII genotype with plasma factor VII activity and antigen levels in healthy Indian adults and interaction with triglycerides. Arterioscl. Thromb 1994; 14: 1923-1927
- 55 Takamiya O. Genetic polymorphism (Arg353iEGln) in coagulation factor VII gene and factor VII levels (coagulant activity, antigen and binding ability to tissue factor) in 101 healthy Japanese. Scand J. Clin Lab Invest 1995; 55: 211-215
- 56 Arbini AA, Bauer KA. Reduced plasma factor VII coagulant activity due to the Aig353Gln polymorphism in the factor VII gene results from defective secretion. Blood 1994; 84 (Suppl. 01) 86a
- 57 Lane A, Cruickshank JK, Mitchell J, Henderson A, Humphries S, Green F. Genetic and environmental determinants of factor VII coagulant activity in different ethnic groups at differing risk of coronary heart disease. Atherosclerosis 1992; 94: 43-50
- 58 Humphries SE, Lane A, Green F, Cooper J, Miller G. Factor VII coagulant activity and antigen levels in men are determined by interaction between factor VII genotype and plasma triglyceride concentration. Arterioscl. Thromb 1994; 14: 193-198
- 59 Koster T, Rosendaal FR, Reitsma PH, van derVelden PA, Briët E, Vandenbroucke JP. Factor VII and fibrinogen levels as risk factors for venous thrombosis. Thromb. Haemost 1994; 71: 719-722
- 60 Escoffre M, Zini JM, Schliamser L, Mazoyer E, Soria C, Tobelem G, Dupuy E. Severe arterial thrombosis in a congenitally factor VII deficient patient. Br J Haematol 1995; 91: 739-741
- 61 Marchetti G, Patracchini P, Papacchini M, Ferrati M, Bernardi F. A polymorphism in the 5’ region of coagulation factor VII gene (F7) caused by an inserted decanucleotide. Hum Genet 1993; 90: 575-576
- 62 Sacchi E, Tagliabue L, Scoglio R, Baroncini C, Coppola R, Bernardi F, Mannucci PM. Plasma factor VII levels are influenced by a polymorphism in the promoter region of the FVII gene. Blood Coag. Fibrinol 1996; 07: 114-117
- 63 Humphries S, Temple A, Lane A, Green F, Cooper J, Miller G. Low plasma levels of factor VIIc and antigen are more strongly associated with the 10 base pair promoter (-323) insertion than the glutamine 353 variant. Thromb. Haemost 1996; 75: 567-572
- 64 Pollak ES, Hung HL, Godin W, Overton GC, High KA. Functional characterization of the human factor VII 5’-flanking region. J Biol Chem 1996; 271: 1738-1747
- 65 Erdmann D, Heim J. Orphan nuclear receptor HNF-4 binds to the human coagulation factor VII promoter. J Biol Chem 1995; 270: 22988-22996
- 66 Bernardi F, Marchetti G, Pinotti M, Arcieri P, Baroncini C, Papacchini M, Zepponi E, Ursicino N, Chiarotti F, Mariani G. Factor VII gene polymorphisms contribute about one third of the factor VII level variation in plasma. Arterioscler. Thromb Vase Biol 1996; 16: 72-76
- 67 Temple A, Luong LA, Cruickshank K, Humphries SE. The 10-base-pair insertion in the promoter of the factor VII gene is not associated with lower levels of factor VIIC in Afrocarribeans. Thromb. Haemost 1997; 77: 213-214
- 68 O’Hara PJ, Grant FJ. The human factor VII gene is polymorphic due to variation in repeat copy number in a minisatellite. Gene 1988; 66: 147-158
- 69 Marchetti G, Gemmati D, Patracchini P, Pinotti M, Bernardi F. PCR detection of a repeat polymorphism within the F7 gene. Nucleic Acids Res 1991; 19: 4570
- 70 de KnijffP, Green F, Johansen LG, Grootendorst D, Temple A, Cruickshank JK, Humphries SE, Jespersen J, Kluft C. New alleles in F7 VNTR. Hum Molec. Genet 1994; 03: 384
- 71 Chaing SH, Wallmark A, Berntorp E, High KA. A NIaIII polymorphism within the human factor VII gene.Hum. Genet 1994; 93: 722-723
- 72 Hassan HJ, Leonardi A, Chelucci C, Mattia G, Macioce G, Guerriero R, Russo G, Mannucci PM, Peschle C. Blood coagulation factors in human embryonic fetal development: preferential expression of the FVII/tissue factor pathway. Blood 1990; 76: 1158-1164
- 73 Hassan HJ, Chelucci C, Peschle C, Sorrentino V. Transforming growth factor b inhibits expression of fibrinogen and factor VII in a hepatoma cell line. Thromb. Haemost 1992; 67: 478-483
- 74 Greenberg D, Miao CH, Ho WT, Chung DW, Davie EW. Liver-specific expression of the human factor VII gene. Proc Natl Acad Sci USA 1995; 92: 12347-12351
- 75 Cooper DN, Krawczak M. Human Gene Mutation. Bios Scientific. Oxford: 1993
- 76 McVey JH, Takamiya O, Tamagnini G, Valente V, Fidalgo T, Layton M, Tuddenham EGD. Exclusion of the first EGF domain of factor VII by a splice site mutation causes lethal factor VII deficiency. Thromb. Haemost 1995; 73: 1439
- 77 Tamary H, Fromovitch Y, Shalmon L, Reich Z, Dym O, Lanir N, Brenner B, Paz M, Luder AS, Blau O, Korostishevsky M, Zaizov R, Seligsohn U. Ala 244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb. Haemost 1996; 76: 283-291
- 78 Bemardi F, Patracchini P, Gemmati D, Ferrati M, Arcieri P, Papacchini M, Redaelli R, Baudo F, Mariani G, Marchetti G. Molecular analysis of factor VII deficiency in Italy: a frequent mutation (FVII Lazio) in a repeated intronic region. Hum. Genet 1993; 92: 446-450
- 79 Bernardi F, Liney DL, Patracchini P, Gemmati D, Legnani C, Arcieri P, Pinotti M, Redaelli R, Ballerini G, Pemberton S, Wacey AI, Mariani G, Tuddenham EGD, Marchetti G. Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII. Br J Haematol 1994; 86: 610-618
- 80 Marchetti G, Patracchini P, Gemmati D, DeRosa V, Pinotti M, Rodorigo G, Casonato A, Girolami A, Bemardi F. Detection of two missense mutations and characterization of a repeat polymorphism in the factor VII gene (F7). Hum. Genet 1992; 89: 497-502
- 81 Bemardi F, Castaman G, Pinotti M, Ferraresi P, Di IasioMG, Lunghi B, Rodeghiero F, Marchetti G. Mutation pattern in clinically asymptomatic coagulation factor VII deficiency. Hum. Mutation 1996; 08: 108-115
- 82 O’Brien DP, Gale KM, Anderson JS, McVey JH, Miller GJ, Meade TW, Tuddenham EGD. Purification and characterization of factor VII 304-Gln: a variant molecule with reduced activity isolated from a clinically unaffected male. Blood 1991; 78: 132-140
- 83 Millar DS, Cooper DN, Kakkar VV, Schwartz M, Scheibel E. Prenatal exclusion of severe factor VII deficiency by DNA sequencing. Lancet 1992; 339: 1359
- 84 AlShinawi C, Scerri C, Galdies R, Aquilina A, Felice AE. Two new missense mutations (P134T and A244V) in the the coagulation factor VII gene. Hum. Mutation 1997 in press
- 85 Giannelli F, Green PM, Sommer SS, Poon M-C, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Brownlee GG. Haemophilia B (sixth edition): a database of point mutations and short additions and deletions. Nucleic Acids Res 1996; 24: 103-118
- 86 Grundy CB, Melissari E, Lindo V, Scully MF, Kakkar VV, Cooper DN. Late-onset homozygous protein C deficiency. Lancet 1991; 338: 575-576
- 87 Padmanabham K, Padmanabham KP, Tulinsky A, Park CH, Bode W, Huber R, Blankenship DT, Cardin AD, Kisiel W. Structure of human des(1045) factor Xa at 2.2è resolution. J Molec Biol 1993; 232: 947-966
- 88 Bharadwaj D, lino M, Kontoyianni M, Smith KJ, Foster DC, Kisiel W. Factor VII Central. J Biol Chem 1996; 271: 30685-30691
- 89 Arbini AA, Mannucci PM, Bauer KA. A Thr359Met mutation in factor VII of a patient with a hereditary deficiency causes defective secretion of the molecule. Blood 1996; 87: 5085-5094
- 90 Arbini AA, Pollak ES, Bayleran JK, High KA, Bauer KA. Severe factor VII deficiency due to a mutation disrupting a hepatocyte nuclear factor 4 binding site in the factor VII promoter. Blood 1997; 89: 176-182
- 91 Kavlie A, Wright MS, Stormorken H, Prydz H. Mutations in the factor VII gene of Norwegian FVII deficient patients. Thromb. Haemost 1993; 69: 612
- 92 Rosa H, Diniz MJ, Lavinha J. Factor VII Coimbra: a novel splice site mutation in the human factor VII gene. Eur J Hum Genet 1996; 04 (Suppl. 01) 72
- 93 Chen Q, Clarke BJ, Blajchman MA, Ofusu FA. Factor VII Hamilton: a novel type 2 mutation located at residue 57 in the first EGF domain of human factor VII. Thromb. Haemost 1993; 69: 1291
- 94 Chaing S, Clarke B, Sridhara S, Chu K, Friedman P, VanDusen W, Roberts HR, Blajchman M, Monroe DM, High KA. Severe factor VII deficiency caused by mutations abolishing the cleavage site for activation and altering binding to tissue factor. Blood 1994; 83: 3524-3535
- 95 Takamiya O, Abe S, Yoshioka A, Nakajima K, McVey JH, Tuddenham EGD. Factor VII Shinjo: a dysfunctional factor VII variant homozygous for the substitution Gin for Arg at position 79. Haemostasis 1995; 25: 89-97
- 96 Takamiya O, Kemball-Cook G, Martin DMA, Cooper DN, von FeltenA, Meili E, Hann I, Prangnell DR, Lumley H, Tuddenham EGD, McVey JH. Detection of missense mutations by single-strand conformational polymorphism (SSCP) analysis in five dysfunctional variants of coagulation factor VII. Hum. Molec Genet 1993; 02: 1355-1359
- 97 Kuppuswamy MN, Sabharwal AK, Birktoft JJ, Bajaj SP. Molecular characterization of human factor VII Kansas (GK704): substitution of GlnlOO by Arg in one allele and of Arg304 by Gin possibly in the other allele. Thromb. Haemost 1993; 69: 1292
- 98 Marchetti G, Ferrati M, Patracchini P, Redaelli R, Bernardi F. A missense mutation (178Cys-»Tyr) and two neutral dimorphisms (115His and 333Ser) in the human coagulation factor VII gene. Hum. Molec Genet 1993; 02: 1055-1056
- 99 Bernardi F, Castaman G, Redaelli R, Pinotti M, Lunghi B, Rodeghiero F, Marchetti G. Topologically equivalent mutations causing dysfunctional coagulation factors VII (294Ala->Val) andX (334Ser→Pro). Hum. Molec Genet 1994; 03: 1175-1177
- 100 Ohiwa M, Hayashi T, Wada H, Minamikawa K, Shirakawa S, Suzuki K. Factor VII Mie: homozygous asymptomatic type I deficiency caused by an amino acid substitution of His (CAC) for Arg (247) (CGC) in the catalytic domain. Thromb. Haemost 1994; 71: 773-777
- 101 Arbini AA, Bodkin D, Lopaciuk S, Bauer KA. Molecular analysis of Polish patients with factor VII deficiency. Blood 1994; 84: 2214-2220
- 102 James HL, Girolami A, Hubbard JG, Kumar A, Fair DS. The dysfunction of coagulation factor VII Padua results from substitution of arginine 304 by glutamine. Biochim. Biophys Acta 1993; 1172: 301-305
- 103 Matsushita T, Kojima T, Emi N, Takahashi I, Saito H. Impaired human tissue factor-mediated activity in blood clotting factor VII Nagoya (Arg304-»Trp). J Biol Chem 1994; 269: 7355-7363
- 104 Zheng D-O, Shurafa M, James HL. Factor VII G331D: a variant molecule involving replacement of a residue in the substrate-binding region of the catalytic domain. Blood Coag. Fibrinol 1996; 07: 93-96