-
2
-
-
0026758866
-
De Novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
-
Berg LP, Grundy CB, Thomas F, Millar DS, Green PJ, Krawczak M, Slomski R, Reiss J, Kakkar VV, Cooper DN (1992) De Novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis. Genomics 13:1359-1361.
-
(1992)
Genomics
, vol.13
, pp. 1359-1361
-
-
Berg, L.P.1
Grundy, C.B.2
Thomas, F.3
Millar, D.S.4
Green, P.J.5
Krawczak, M.6
Slomski, R.7
Reiss, J.8
Kakkar, V.V.9
Cooper, D.N.10
-
4
-
-
0026590446
-
Antithrombin-III-Stockholm: A codon 392 (Gly-Asp) mutation with normal heparin binding and impaired serine protease reactivity
-
Blajchman MA, Fernandez Rachubinski F, Sheffield WP, Austin RC, Schulman S (1992b) Antithrombin-III-Stockholm: A codon 392 (Gly-Asp) mutation with normal heparin binding and impaired serine protease reactivity. Blood 79:1428-1434.
-
(1992)
Blood
, vol.79
, pp. 1428-1434
-
-
Blajchman, M.A.1
Fernandez Rachubinski, F.2
Sheffield, W.P.3
Austin, R.C.4
Schulman, S.5
-
5
-
-
0021109011
-
Characterization of an unusual DNA length polymorphism 5′ to the human antithrombin III gene
-
Bock SC, Levitan DJ (1983) Characterization of an unusual DNA length polymorphism 5′ to the human antithrombin III gene. Nucl Acids Res 11:8569-8582.
-
(1983)
Nucl Acids Res
, vol.11
, pp. 8569-8582
-
-
Bock, S.C.1
Levitan, D.J.2
-
6
-
-
0023595338
-
Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency
-
Bock SC, Prochownik EV (1987) Molecular genetic survey of 16 kindreds with hereditary antithrombin III deficiency. Blood 70:1273-1278.
-
(1987)
Blood
, vol.70
, pp. 1273-1278
-
-
Bock, S.C.1
Prochownik, E.V.2
-
7
-
-
77957219562
-
A Nhe I RFLP in the human antithrombin III gene (1q23-q25) (AT3)
-
Bock SC, Radziejewska E (1991) A Nhe I RFLP in the human antithrombin III gene (1q23-q25) (AT3). Nucleic Acids Res 19:2519.
-
(1991)
Nucleic Acids Res
, vol.19
, pp. 2519
-
-
Bock, S.C.1
Radziejewska, E.2
-
8
-
-
0023684037
-
Antithrombin III Utah: Proline-407 to leucine mutation in a highly conserved region
-
Bock SC, Marrinan JA, Radziejewska E (1988) Antithrombin III Utah: Proline-407 to leucine mutation in a highly conserved region. Biochemistry 27:6171-6178.
-
(1988)
Biochemistry
, vol.27
, pp. 6171-6178
-
-
Bock, S.C.1
Marrinan, J.A.2
Radziejewska, E.3
-
9
-
-
0021914307
-
Assignment of the human antithrombin III structural gene to chromosome 1q23-25
-
Bock SC, Harris JF, Balazs I, Trent JM (1985) Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet 39:67-69.
-
(1985)
Cytogenet Cell Genet
, vol.39
, pp. 67-69
-
-
Bock, S.C.1
Harris, J.F.2
Balazs, I.3
Trent, J.M.4
-
10
-
-
0345215694
-
Identification of a threonine for alanine substitution at residue 404 of antithrombin III Oslo suggests integrity of the 404-407 region is important for maintaining normal inhibitor levels
-
Bock SC, Silberman JA, Wikoff W, Abildgaard U, Hultin MB (1989) Identification of a threonine for alanine substitution at residue 404 of antithrombin III Oslo suggests integrity of the 404-407 region is important for maintaining normal inhibitor levels. Thromb Haemostas 62:494.
-
(1989)
Thromb Haemostas
, vol.62
, pp. 494
-
-
Bock, S.C.1
Silberman, J.A.2
Wikoff, W.3
Abildgaard, U.4
Hultin, M.B.5
-
11
-
-
0023886488
-
Proposed heparin binding site in antithrombin based upon Arginine 47 a new variant Rouen-II, 47 Arg to Ser
-
Borg J-Y, Owen MC, Soria C, Soria J, Caen J, Carrell RW (1988) Proposed heparin binding site in antithrombin based upon Arginine 47 a new variant Rouen-II, 47 Arg to Ser. J Clin Invest 81:1292-1296.
-
(1988)
J Clin Invest
, vol.81
, pp. 1292-1296
-
-
Borg, J.-Y.1
Owen, M.C.2
Soria, C.3
Soria, J.4
Caen, J.5
Carrell, R.W.6
-
12
-
-
15844392091
-
A double heterozygosity in 2 brothers with antithrombin (ATIII) deficiency due to the association of an Arg 47 to His mutation with a 9 base pair (bp) deletion in exon VI
-
Vidaud D, Sireix ME, Ahlenc-Gelas M, Chadeuf G, Aillaud MF, Juhan-Vague I, Aiach M (1991c) A double heterozygosity in 2 brothers with antithrombin (ATIII) deficiency due to the association of an Arg 47 to His mutation with a 9 base pair (bp) deletion in exon VI. Thromb Haemostas 65:838.
-
(1991)
Thromb Haemostas
, vol.65
, pp. 838
-
-
Vidaud, D.1
Sireix, M.E.2
Ahlenc-Gelas, M.3
Chadeuf, G.4
Aillaud, M.F.5
Juhan-Vague, I.6
Aiach, M.7
-
13
-
-
0027052295
-
A novel missense mutation in the antithrombin III gene (Ala 387 to Val) causing recurrent thrombosis
-
White D, Abraham G, Carter C, Kakkar VV, Cooper DN (1992) A novel missense mutation in the antithrombin III gene (Ala 387 to Val) causing recurrent thrombosis. Hum Genet 90:472-473.
-
(1992)
Hum Genet
, vol.90
, pp. 472-473
-
-
White, D.1
Abraham, G.2
Carter, C.3
Kakkar, V.V.4
Cooper, D.N.5
-
14
-
-
0020042262
-
Confirmation of linkage between ATIII and Duffy blood group and assignment of ATIII to 1q23-q25
-
Winter JJ, Bennett B, Watt JL, Brown T, San Roman C, Schinzel A, King J, Cook PJL (1982) Confirmation of linkage between ATIII and Duffy blood group and assignment of ATIII to 1q23-q25. Ann Hum Genet 46:29-34.
-
(1982)
Ann Hum Genet
, vol.46
, pp. 29-34
-
-
Winter, J.J.1
Bennett, B.2
Watt, J.L.3
Brown, T.4
San Roman, C.5
Schinzel, A.6
King, J.7
Cook, P.J.L.8
-
15
-
-
0024364333
-
Human antithrombin III (AT3) gene length polymorphism revealed by the polymerase chain reaction
-
Wu S, Seino S, Bell GI (1989) Human antithrombin III (AT3) gene length polymorphism revealed by the polymerase chain reaction. Nucleic Acids Res 17:6433.
-
(1989)
Nucleic Acids Res
, vol.17
, pp. 6433
-
-
Wu, S.1
Seino, S.2
Bell, G.I.3
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