Genetisch bedingte Fehlfunktionen der Gerinnungsfaktoren

E Deutsch

doi:10.1055/s-0038-1655137

Hämostaseologie, Table of Contents

Hamostaseologie 1986; 06(01): 44-56
DOI: 10.1055/s-0038-1655137

Originalarbeiten

Schattauer GmbH

Genetisch bedingte Fehlfunktionen der Gerinnungsfaktoren

E Deutsch

¹I. Medizinischen Universitätsklinik, Wien

› Author Affiliations

Abstract

Zusammenfassung

Es wird eine Übersicht über eine Auswahl der derzeit bekannten Varianten der wichtigsten Gerinnungsfaktoren gegeben. Gleichzeitig wird auf die chromosomale Lokalisation der Gene, die möglichen Größen der Gene und der derzeit verfügbaren cDNA’s hingewiesen, wobei diese Angaben nur einen präliminären grob informativen Charakter haben.

Full Text

References

Literatur
1 Aiach M, Nora M, Fiessinger J N, Roncato M, Francois D, Gelas M A. A functional abnormal antithrombin III (AT III) deficiency: AT VIII Charleville. Thromb Res 1985; 39: 559-70.
2 Anson D S, Choo K H, Rees D J G, Gianelli K G, Huddlestone J A, Brownlee G S. The gene-structure of human antihaemophilic factor IX. EMBO J 1984; 03 5, 1053-60.
3 Antonarakis E S, Copeland K, Carpenter Jr. R J, Carta C A, Hoyer L W, Caskey C T, Toole J J, Kazazian Jr. H H. Prenatal diagnosis of haemophilia A by factor VIII gene analysis. Lancet 1985; I: 1407-9.
4 Bahnak B R, Howk R, Millstein L, Edgington T S, Jaye M C, Drohan W W, Fair D S. Characterization of a human factor X cDNA clone and analysis of factor X transcription by human hepatoma cells. Thromb Haemost 1985; 54: 168.
5 Barbui T, Finazzi G. Characterization of a new variant of inherited dysfunctional antithrombin (AT “Vicenca”). Thromb Haemost 1983; 50: 360.
6 Bauer K A, Ashenhurst J B, Chediak J, Rosenberg R D. Antithrombin “Chicago”: a functionally abnormal molecule with increased heparin affinity causing familial thrombophilia. Blood 1983; 62: 1242-50.
7 Beck E A. Hereditäre Dysfibrinogenämie. Hämostaseologie 1983; 03: 102-6.
8 Beck E A, Furlan M. Variants of Human Fibrinogen. H. Huber; Bern Stuttgart Toronto: 1984
9 Benarous R, Rabiet M J, Labie D, Josso F. Activation studies on a human prothrombin variant: prothrombin Barcelona. Thromb Haemost 1977; 38: 188.
10 Bertina R M. Genetic variants of factor IX. In: Haemophilia. Seligsohn U, Rimon A, Horoszowski H. (Eds). Castle House; Tunbridge Wells: 1981: 19-27.
11 Bertina R M, Alderkamp G J H, de Nooy E. A variant of factor X that is defective only in extrinsic coagulation. Thromb Haemost 1981; 46: 88.
12 Bertina R M, van der Linden I K. A genetic variant of factor IX with an abnormal high molecular weight. Thromb Haemost 1981; 46: 125.
13 Bertina R. M, van der Linden I K: Factor IX Deventer evidence for the heterogeneity of hemophilia B_M . Thromb Haemost 1982a 47: 136-40.
14 Bertina R M, van der Linden I. Factor IX Zutphen. A genetic variant of blood coagulation of factor IX with an abnormally high molecular weight. J Lab Clin Med 1982b 100: 695-704.
15 Bertina R M. Variants of hemophilia B. VIII Int Kongr Thromb Istanbul 1984; 82.
16 Berrettini M, Lämmle B, Ciavarella G, Ciavarella N. Functional and immunological studies of abnormal factor XII in a cross reacting material positive (CRM⁺) factor XII deficiency. Thromb Haemost 1985; 54: 120.
17 Bezeaud A, Guillin M-C, Olmeda F, Quintana M, Gomee N. Prothrombin Madrid: A new familial abnormality of prothrombin. Thromb Res 1979; 16: 47-58.
18 Bloom A L. Inherited disorders of blood coagulation. In: Haemostasis and Thrombosis. Bloom A L, Thomas D P. (Eds). Churchill Livingstone; Edinbourgh London Melbourne New York: 1981: 321-70.
19 Boyer C, Tripodi A, Wolf M, Mannucci P M, Larrieu M J. A new familial variant of antithrombin III: “Antithrombin III Milano”. Thromb Haemost 1983; 50: 51.
20 Boyer C, Wolf M, Vedrenne J, Larrieu M J. Antithrombine III Fontainebleau: un variant homozygote de l’antithrombine III. Nouv Rev Fr Hematol 1985; 27: 106.
21 Borg J Y, Soria J, Soria C, Legendre M, Piguet H, Moncoduit M. Antithrombin III variants Rouen with defective heparincofactor activities and low thrombotic incidence. Thromb Haemost 1985; 54: 88.
22 Bock S C, Levitan D J. Characterization of an unusual DNA length polymorphism 5’ to the human antithrombin III gene. Nucl Acid Res 1983; 11: 8569-82.
23 Bock S C, Harris J F, Balasz I, Trent J M. Assignment of the human antithrombin III structural gene to chromosome lq23-25. Cytogenet Cell Genet 1985a 39: 67-9.
24 Bock S C, Harris J F, Schwartz C E, Ward J H, Hershgold E J, Skolnick M H. Hereditary thrombosis in a Utah kindred is caused by a dysfunctional antithrombin III-gene. Amer J Hum Genet 1985; b; 37: 32-41.
25 Briet E, Bertina R M, van Tilberg N H, Veltkamp J J. Hemophilia B Leyden. A sex-linked hereditary disorder that improves after puberty. New Engl J Med 1982; 306: 788-90.
26 Camerino G, Grzeschnik K H, Jaye M, De La HSalle, Tolshoshev P, Lecocq J D. Reginal localization on the human X Chromosom and polymorphism of the coagulation factor IX gene (hemophia B locus). Proc Natl Acad Sci (USA) 1984; 81: 498-502.
27 Chung D W, Chan W-Y, Davie E W. Characterization of a complementary deoxynucleic acid coding for the y-chain of human fibrinogen. Biochemistry 1983a 22: 3250-6.
28 Chung D W, Que B G, Rixon M W, Mace Jr. M, Davie E W. Characterization of complementary deoxyribonucleic acid and genomic deoxyribonucleic acid for the ß chain of human fibrinogen. Biochemistry 1983b 22: 3244-50.
29 Chung D W, Rixon M W, Que B G, Davie E W. Cloning of fibrinogen genes and their cDNA. Ann NY Acad Sci 1983c 408: 449-56.
30 Cool D E, Edgell C-JS, MacGillivray R T A. Characterization of human factor XII cDNA. Thromb Haemost 1985; 54: 120.
31 Cosgriff T M, Bishop D T, Hershgold E J, Skolnick M H, Martin B A, Baty B J, Carlson K S. Familial antithrombin III deficiency: its natural history, genetics, diagnosis and treatment. Medicine 1983; 62: 209-20.
32 Crabtree G R, Plutzky J, Marier R, Bertina R M, Brockmans A W, Griffin J, Zacharski L, Gruppo R, Sala N, Long G. The range of genotypes underlying human protein C deficiency. Thromb Haemost 1985; 54: 56.
33 Denson K W E, Lurie A, DeCataldo F, Mannucci P M. The factor X defect: Recognization of abnormal forms of factor X. Brit J Haematol 1970; 18: 317-27.
34 Deutsch E. Pathophysiologie der plasmatisch bedingten Coagulopathien. In: Hämorrhagische Diathesen, Int. Symp. Wien 1955. Jürgens R, Deutsch E. (Eds). Springer, Wien; 1955: 71-8.
35 Deutsch E. Verschiedene Formen der Hämophilie. Thromb Diath Hämorrh 1957; 01: 93-113.
36 Din N, Schwartz M, Kruse T, Vestergaard S R, Ahrens P, Caput D, Hartog K, Quiroga M. Factor VIII gene specific probe for prenatal diagnosis of haemophilia A. Lancet 1985; I: 1446-7.
37 Doolittle R F. Fibrinogen and Fibrin. Ann Rev Biochem 1984; 53: 195-229.
38 Fair D, Revak D, Edgington T, Girolami A. Structural studies on the factor X Friuli variant. Thromb Haemost 1983; 50: 272.
39 Fair D S, Edgington T S. Heterogeneity of hereditary and acquired factor X deficiencies by combined immunochemical and functional analysis. Brit J Haemat 1985; 59: 235-48.
40 Fantl P, Sawers R J. Haemophilia: A syndrome under review. Investigations of alpha and beta prothromboplastin deficiencies. Australian Ann Med 1954; 03: 245-62 Abstract: Blood 1956; 11: 681.
41 Felez J, Grau F, Fontcuberta J, Soto R, Diego I, Rueda F, Rutilant M L. Qualitative and quantitative congenital deficiency of antithrombin-III: a new molecular variant provisionally called AT-III-Barcelona. Thromb Haemost 1985; 54: 90.
42 Filippi G, Mannucci P M, Coppola R, Farris A, Rinaldi A, Siniscalco M. Studies on hemophilia A in Sardinia bearing on the problems of multiple allelism, carrier detection, and differential mutation rate in two sexes. Amer J Hum Gen 1984; 36: 44-71.
43 Finazzi G, Tran T H, Barbui T, Duckert F. Purification of antithrombin “Vicenca”: a molecule with normal heparin affinity and impaired reactivity to thrombin. Brit J Haemat 1985; 59: 259-63.
44 Fischer A-M, Gazengel C, Dautzenberg M-D, Benhammo J, Béguin S, Vergoz D. A new case of abnormal antithrombin III (AT III): biological characteristics and thromboembolic accidents management. Thromb Haemost 1983; 50: 358.
45 Foster D C, Yoshitake S, Davie E W. Characterization of the gene for human protein C. Thromb Haemost 1985; 54: 55.
46 Friezner S JDegen, MacGillivray R T A, Davie E W. Characterization of complimentary deoxyribonucleic acid and gen coding human prothrombin. Biochemistry 1983; 22: 2087-97.
47 Fung M R, Campbell R M, MacGillivray R T A. Blood coagulation factor X mRNA encodes a single polypeptide chain containing a pre-pro-leader sequence. Nucl Acid Res 1984; 12: 4481-92.
48 Fung M R, Hay C W, MacGillivray R T A. Characterization of the gene coding for human factor X. Thromb Haemost 1985; 54: 168.
49 Gianelli F, Anson D, Brownlee G G, Choo K H, Rees D J G, Boyd Y, Edwards J H, Rizza C. Molecular defects in the gene for human coagulation factor IX. Thromb Haemost 1983; 50: 324.
50 Ginsburg D, Handin R I, Bonthron D T, Donlon T A, Bruns G A P, Latt S A, Orkin S H. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. Science 1985; 228: 1401-6.
51 Girolami A, Molaro G, Lazzarin M, Scarpa R, Brunetti A. A “new” congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): a study of a large kindred. Brit J Haemat 1970; 19: 179-92.
52 Girolami A, Lazzarin M, Molaro G. The effect of several tissue thromboplastins on the activation of the abnormal factor X (factor X Friuli). Thromb Diath Haemorrh 1972a 27: 535-42.
53 Girolami A, Sticchi A, Bareggi G. Crossover electrophoresis (electrosyneresis) visualization of the abnormal factor X (factor X Friuli). J Lab Clin Med 1972b 80: 740-7.
54 Girolami A. Prothrombin Padua. In: Prothrombin and Related Coagulation Factors. Hemker H C, Veitkamp J J. (Eds). Leiden: University Press; 1975: 213-22.
55 Girolami A, Falezza G, Patrassi G M, Stenico M, Vettore L. Factor VII Verona: Double heterozygous between an abnormal factor VII and factor VII heterozygous deficiency. Blood 1977; 50: 603-10.
56 Girolami A, Fabris F, Dal bo Zanon R, Ghiotto G. Factor VII Padua: A congenital coagulation disorder due to an abnormal factor VII with a peculiar activation pattern. J Lab Clin Med 1978; 91: 387.
57 Girolami A, Cattarozzi G, Dal bo Zanon R, Celia G, Toffanin F. Factor VII Padua 2: an other factor VII abnormality with defective ox brain thromboplastin and a complex hereditary pattern. Blood 1979a 54: 46-53.
58 Girolami A, Saggin L, Boeri G. Factor X assays using chromogenic substrates S-222. Amer J Clin Path 1979b 73: 400-2.
59 Girolami A. The congenital variants of the prothrombin complex factors. Acta Haemat 1980; 63: 339-41.
60 Girolami A, Fabris F, Cappellato G, Sainati L, Boeri G. Antithrombin III (AT III) Padua₂: A “new” congenital abnormality with defective heparin co-factor activities but no thrombotic disease. Blut 1983; 47: 93-103.
61 Girolami A, Marafioti F, Rubertelli M, Vicarioto M A, Cappellato G, Mazzuccato M. Antithrombin III Trento a new congenital AT III abnormality with a peculiar crossed-immunoelectrophoretic pattern in the absence of heparin. Acta Haemat 1984a 72: 73-82.
62 Girolami A, Patrassi G, Fabris F, Vicarioto M A. Faktor-VII-Mangel und Varianten. Hämostaseologie 1984b 04: 98-104.
63 Girolami A, Vicarioto M, Ruzza G, Cappellato G, Vergolani A. Factor X Padua: a “new” congenital factor X abnormality with a defect only in the extrinsic system. Acta Haemat 1985; 73: 31-6.
64 Goodnight S H, Feinstein D I, Osterud B, Rapaport S I. F Vll-antibody-neutralizing material in hereditary and acquired F VIIdeficiency. Blood 1971; 38: 1-8.
65 Goossens M, Daffos F, Forestier F, Gazengel C. First trimester prenatal diagnosis of severe Christmas disease. Thromb Haemat 1985; 54: 274.
66 Guinto E R, MacGillivray R T A. In vitro transcription of prothrombin cDNA using SP6 RNA. Thromb Haemost 1985; 54: 46.
67 Hassan H J, Leonardi A, Guerriero R, Chelucci C, Cianetti L, Ciavarella N, Ranieri P, Pilolli D, Peschle C. Hemophilia B inhibitor: molecular analysis for the subtotal deletion of the factor IX gene. Blood 1985; 66: 728-30.
68 Hellstern P, Mannhalter C, Köhler M, Kiehl R, van Blohn G, Wenzel E, Deutsch E. Combined dys-form of homozygous factor Xl-deficiency and heterozygous factor XH-deficiency. Haemostasis 1985; 15: 215-9.
69 Henrikson R A, Owen W G. Action of thrombin Quick I on protein substrates. Thromb Haemost 1985; 54: 262.
70 Henschen A. Fibrinogen Blutgerinnungsfaktor I; Biochemische Aspekte. Hämostaseologie 1981; 01: 30-40.
71 Henschen A. Fehlbildungen des Fibrinogens. Symposium Blutgerinnung: Physiologie, Pathophysiologie und Klinik. (Bad Nauheim IX/1985
72 Hougie C, Barrow E M, Graham J B. Stuart clotting defect I. Segregation of an hereditary state from the heterogenous group heretofore called “stable factor”, (SPCA, Procouvertin, Factor VII) deficiency. J Clin Invest 1957; 36: 485-96.
73 Howarth D J, Samson D, Stirling Y, Seghatchian M J. Antithrombin III “Northwick Park”: a variant antithrombin with normal affinity for heparin but reduced heparin cofactor activity. Thromb Haemost 1985; 53: 314-9.
74 Hoyer L W, Breckenridge R T. Immunologic studies of antihemophilic factor (AHF, Factor VIII): Cross-reacting material in a genetic variant of hemophilia A. Blood 1968; 32: 962-71.
75 Huisse M G, Dreyfus M, Guillin M C. Prothrombin Clamart: prothrombin variant with defective ARG 322-ILE cleavage by factor Xa. Thromb Haemost 1985; 54: 46.
76 Irwin D M, Ahern K, Pearson G, MacGillivray R T A. The structure of the bovine prothrombin gene. Thromb Haemost 1985; 54: 46.
77 Kahn M J P. Prothrombin Brussels. In: Prothrombin and Related Coagulation Factors. Hemker H C, Veltkamp J J. (Eds). Leiden: University Press; 1975: 223-9.
78 Kant J A, Fornace Jr. A J, Saxe D, Simon M I, McBride O W, Crabtree G R. Evolution and organization of the fibrinogen locus on chromosome: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci 1985; 82: 2344-8.
79 Koide T, Takahashi K, Sakuragawa N. Antithrombin III Toyama: abnormal antithrombin III resulting from replacement of arginine-47 by cysteine at the heparinbinding site. Thromb Haemost 1983; 50: 162.
80 Koide T, Odani S, Takahashi K, Ono T, Sakuragawa N. Antithrombin III Toyama: replacement of arginine-47 by cysteine in hereditary abnormal antithrombin III that lacks heparin-binding ability. Proc Natl Acad Sci 1984; 81: 289-93.
81 Kurachi K, Davie E W. Isolation and characterization of cDNA coding for human factor IX. Proc Natl Acad Sci 1982; 79: 6461-4.
82 Lawn R M, Gitschier J, Wood W I, Wion K, Tuddenham E. Cloned factor VIII and studies of the molecular genetics of hemophilia A. Thromb Haemost 1985; 54: 54.
83 Lechner K, Mähr G, Margaritella P, Deutsch E. Factor X Vorarlberg, a new variant of hereditary factor X deficiency. Thromb Haemost 1979; 42: 58.
84 Leone G, De Stefano V, De Martini D, Bizzi B. Anithrombin III Roma: further evidence that defective binding to heparin is related to a pH 4,65-4,8 isoantithrombin. Thromb Haemost 1985; 54: 25.
85 Lillicrap D P, Liddell M B, Matthews R J, Peake I R, Bloom A L. Comparison of phenotypic assessment and the use of restriction fragment length polymorphisms (RFLPs) in diagnosis of the carrier state in haemophilia B. Thromb Haemost 1985; 54: 273.
86 Long G L, Bang N U, Beckman R J, Hoskins J A, Jaskunas S R, Little S P, Santerre R F, Crabtree G R. Cloning, DNA sequencing, and expression of genetic material cloning for human protein C. Thromb Haemost 1985; 54: 56.
87 Mariani G, Mazzucconi M G. Factor VII congenital deficiency clinical picture and classification of the variants. Haemostasis 1983; 13: 169-77.
88 Mattei M G, Baeteman M A, Heilig R, Oberle I, Davies K, Mandel J L, Mattei J E. Localization by in situ hybridization of the coagulation factor IX gene and of two polymorphic DNA probes with respect to the fragile X site. Hum Genet 1985; 69: 327-31.
89 Matthews R J, Liddell M B, Lillicrap O P, Peake I R. Gene analysis in haemophilia A. Thromb Haemost 1985; 54: 154.
90 Mazzucconi M G, Bertina R M, Romoli D, Orlando M, Avvisati G, Mariani G. Factor VII activity and antigen in haemophilia B variants. Thromb Haemost 1980; 43: 16-9.
91 McGraw R A, Davis L M, Noyes C M, Lundblad R L, Roberts H R, Graham J B, Stafford D W. Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX. Proc Natl Acad Sci 1985; 82: 2847-51.
92 Mertens K, Cupers R, van der Linden I K, Bertina R M. The functional defect of factor IX Eindhoven a genetic variant of factor IX. Thromb Haemost 1983; 50: 249.
93 Montgomery R R, Corrigan J J, Clarke S, Johnson J. Prothrombin Denver. A new dysprothrombinemia. Circulation 1980; Suppl III: 279.
94 Mortensen J Z. Inherited AT-III deficiency fast and slow inactivation of thrombin and factor Xa. Thromb Res 1984; 33: 511-5.
95 Mosesson M W. Fibrinogen Heterogeneity. In: Molecular Biology of Fibrinogen and Fibrin. Mosesson M W, Doolittle R F. 1983. 408 97-113.
96 Murayama H, Matsuda M. Abnormal antithrombin III with defective biological and immunological functions found in a thrombophilic patient “antithrombin III Tokyo”. Thromb Haemost 1983; 50: 358.
97 Noyes C M, Griffith M J, Roberts H R, Lundblad R L. Identification of the molecular defect in factor IX_{Chapel Hill}: substitution of histidine for arginine at position 145 (blood coagulation protein primary structure/amino acid substitution). Proc Natl Acad Sci 1983; 80: 4200-2.
98 Oberle I, Camerino G, Heilig R, Grunebaum L, Cazenave J-P, Crapanzano C, Mannucci P M, Mandel J-L. Genetic screening for hemophilia A (classic hemophilia) with a polymorphic DNA probe. New Engl J Med 1985; 312: 682-6.
99 Østerud B, Kasper C K, Lavine K K, Prodanos C, Rapaport S I. Purification and properties of an abnormal blood coagulation factor IX (Factor IX_Bm)/kinetics of its inhibition of factor X activation by factor VII and bovine tissue factor. Thromb Haemost 1981; 45: 55-9.
100 Ott R, Pfeiffer R A. Evidence that activities of coagulation factor VII and X are linked to chromosome 13 (q34). Hum Hered 1984; 34: 123-6.
101 Owen M C, Brennan S O, Lewis J H, Carrell R W. Mutation of antitrypsin to antithrombin: antitrypsin Pittsburg (358 Met → Arg), a fatal bleeding disorder. N Engl J Med 1983; 309: 694-8.
102 Parekh V R, Mannucci P M, Ruggieri Z M. Immunological heterogeneity of hemophilia B. A multicentre study of 98 kindreds. Br J Haemat 1978; 40: 643-55.
103 Parkin J D, Madaras F, Sweet B, Castaldi P A. A further inherited variant of coagulation factor X. Australian N Z J Med 1974; 04: 561-4.
104 Peake I R, Furlong B L, Bloom A L. Carrier detection by direct gene analysis in a family with haemophilia B (factor IX deficiency). Lancet 1984; I: 242-4.
105 Penner J A, Hassouna M J, Hunter M J, Chockley M. A clinically silent antithrombin III defect in an Ann Arbor Family. Thromb Haemost 1979; 42: 186.
106 Pfeiffer R A, Ott R, Gilgenkrantz S, Alexandre P. Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46, XY, t (13; Y) (qll; q34). Hum Genet 1982; 62: 358-60.
107 Pfeiffer R A, Ott R, Taben K D. Clotting factors VII and X as useful markers of terminal deletion of chromosome 13. Hum Genet 1985; 69: 192.
108 Prochownik E V, Markham A F, Orkin S H. Isolation of a cDNA clone for human antithrombin III. J Biol Chem 1983; 258: 8389-94.
109 Rabiet M J, Elion J, Labié D, Josso F. Purification and partial characterization of a new variant of human prothrombin. Prothrombin Metz. FEBS Lett 1979; 108: 287.
110 Rabiet M J. Prothrombin Molise: a mutant prothrombin characterized by a defect in the thrombin domain. Thromb Haemost 1985; 54: 46.
111 Ragni M V, Sinha D, Sehman F, Lewis H J, Spero J A, Walsh P N. Comparison of bleeding tendency, factor XI coagulant activity and factor XI antigen in 25 factor XI deficient kindreds. Blood 1985; 65: 719-24.
112 Reeve E B, Jacobson L, Bies R. Abnormal turnover of antithrombin III Denver (AT_D). Thromb Haemost 1985; 54: 88.
113 Rixon M W, Chan W Y, Davie E W, Chung D W. Characterization of a complementary deoxyribonucleic acid coding for the chain of human fibrinogen. Biochemistry 1983; 22: 3237-44.
114 Roberts H R, Griffith M J, Braunstein K M, Lundblad R L. Structural abnormalities of the vitamin K-dependent clotting factors. In: Hemophilia and Hemostasis. Menache D, Mac N, Surgenor D, Anderson H. (Eds). Alan R Liss; New York: 1981: 85-102.
115 Roberts D, Hayne O, Fraser E. A family with factor XII deficiency: a family study suggesting that factor XII levels are determinated by the presence of 3 codominant alleles with variable penetrance. Thromb Haemost 1981; 46: 257.
116 Sakuragawa N, Takahashi T, Horikoshi I. Congenital abnormal antithrombin III. Thromb Haemost 1981; 46: 285.
117 Sala N, Borrell M, Fontcuberta J, Felez J, Rutlland M L. Qualitative defect of protein C in a patient with recurrent venous thrombosis. Thromb Haemost 1985; 54: 142.
118 Sas G. Hereditary antithrombin III deficiency: biochemical aspects. Haematologia 1984; 17: 81-6.
119 Shapiro S S, Martinez J, Holburn R R. Congenital dysprothrombinemia. An inherital structural disorder of human prothrombin. J Clin Invest 1969; 48: 2251.
120 Shapiro S S, Maldonado N I, Fradera J, McCord S. Prothrombin San Juan: a complex new dysprothrombinemia. J Clin Invest 1974; 53: 73A.
121 Shapiro S S. Prothrombin San Juan: a complex new dysprothrombinemia. In: Prothrombin and Related Coagulation Factors. Hemker H C, Veltkamp J J. (Eds). Leiden: Univ Press; 1975: 205-12.
122 SØrensen P J, Sas G, Peto I, Blasko G, Kremmer T, Samu A. Distinction of two pathologic antithrombin III molecules: Antithrombin “Aalborg” and Antithrombin III “Budapest”. Thromb Res 1982; 26: 211-9.
123 Stephens A W, Thalley B S, Hirs C H W. Antithrombin III Denver, a ser to leu³⁹⁴ variant without protease inhibitory activity. Thromb Haemost 1985; 54: 49.
124 Stoll C, Roth M P. Partial 4q duplication due to inherited der (13), t(4:13) (g26âl34) mat in a girl with a deficiency of factor X. Human Gen 1980; 53: 303-4.
125 Tonnesen T, Sondergaard F, Mikkelsen M, Davies K E, Old J, Winter R M, Hauge M. X-chromosome-specific probe DX13 for carrier detection and first trimester prenatal diagnosis in haemophilia A. Lancet 1984; 11: 1269-70.
126 Toole J J, Knopf J L, Wozney J M, Sultzman L A, Buecker J L, Pittman D D, Kaufman R J, Brown E, Shoemaker C, Orr E C, Amphlett G N, Foster W B, Coe M L, Knutson G J, Fass D N, Hewick R M. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 1984; 312: 342-6.
127 Tran T H, Bondeli C, Marbet G A, Duckert F. Reactivity of a hereditary abnormal antithrombin III fraction in the inhibition of thrombin and factor Xa. Thromb Haemost 1980; a; 44: 92-5.
128 Tran T H, Bounameaux H, Bondeli C, Honkanen H, Marbet G A, Duckert F. Purification and partial characterization of a hereditary abnormal antithrombin III fraction of a patient with recurrent thrombophlebitis. Thromb Haemost 1980; b; 44: 87-91.
129 Usharani P, Warn-Cramer B J, Kaspar C K, Bajai S P. Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, Los Angeles) of hemophilia B. Evidence for defects affecting the latent catalytic site. J Clin Invest 1985; 75: 76-83.
130 Vehar G A, Keyt B, Eaton D, Rodriguez H, O’Brien D P, Rotblat F, Oppermann H, Keck R, Wood W I, Harkins R N, Tuddenham E G D, Lawn R M, Capon D J. Structure of human factor VIII. Nature 1984; 312: 337-42.
131 Veltkamp J J, Meilof J, Remmelts H G, van der Vlerk D, Loeliger E A. Another genetic variant of hemophilia B: Hemophilia B Leyden. Scand J Haemat 1970; 07: 82-90.
132 Weininger R S, Rudy C, Moake J L, Olson J D, Cimo P L. Prothrombin Houston: A dysprothrombin identifiably by crossed immunelectrofocusing an abnormal Echis carinatus venom activation. Blood 1980; 55: 811-6.
133 Winship P R, Anson D S, Rizza C R, Brownlee G G. Diagnosis of carriers of haemophilia B using cloned gene probes. Thromb Haemost 1985; 54: 55.
134 Winter R M, Tuddenham E G D, Goldman E, Matthews K B. A maximum likelihood estimate of the sex ration of mutation rates in haemophilia A. Hum Genet 1983; 64: 156-9.
135 Wolf M, Boyer C, Lavergne J M, Larrieu M J. A new familial variant of antithrombin III: Antithrombin III Paris. Brit J Haemat 1982; 51: 285-95.
136 Yang H C. Purification and immunological studies of factor IX Worcester. Blood 1977; 50 (Suppl 1): 289.
137 Yu S, Sher B, Kudryk R, Redman C M. Intracellular assembly of human fibrinogen. J Biol Chem 1983; 258: 13407-10.