-
1
-
-
0022257323
-
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
-
Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 1985; 24: 3736-50.
-
(1985)
Biochemistry
, vol.24
, pp. 3736-3750
-
-
Yoshitake, S.1
Schach, B.G.2
Foster, D.C.3
Davie, E.W.4
Kurachi, K.5
-
2
-
-
0031841277
-
Haemophilia B: Database of point mutations and short additions and deletions-eighth edition
-
Giannelli F, Green PM, Sommer SS, Poon M, Ludwig M, Schwaab R, Reitsma PH, Goossens M, Yoshioka A, Figueiredo MS, Brownlee GG. Haemophilia B: database of point mutations and short additions and deletions-eighth edition. Nucleic Acids Res 1998; 26: 265-8.
-
(1998)
Nucleic Acids Res
, vol.26
, pp. 265-268
-
-
Giannelli, F.1
Green, P.M.2
Sommer, S.S.3
Poon, M.4
Ludwig, M.5
Schwaab, R.6
Reitsma, P.H.7
Goossens, M.8
Yoshioka, A.9
Figueiredo, M.S.10
Brownlee, G.G.11
-
3
-
-
50449147939
-
Effect of antihemophilic factor on one stage clotting test
-
Langdell RD, Wagner RH, Brinkhous KM. Effect of antihemophilic factor on one stage clotting test. J Lab Clin Med 1953; 41: 637-41.
-
(1953)
J Lab Clin Med
, vol.41
, pp. 637-641
-
-
Langdell, R.D.1
Wagner, R.H.2
Brinkhous, K.M.3
-
4
-
-
0000163138
-
-
Cold Spring Harbour Laboratory press. New York USA
-
Sambrook J, Fritsch EF, Maniatis T. In: Molecular cloning. Cold Spring Harbour Laboratory press. New York USA 1989; vol. 2; pp 9.16-9.19.
-
(1989)
Molecular Cloning
, vol.2
, pp. 916-919
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
5
-
-
0023476284
-
Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
-
Lerman LS, Silverstein K. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155: 482-500.
-
(1987)
Methods Enzymol
, vol.155
, pp. 482-500
-
-
Lerman, L.S.1
Silverstein, K.2
-
6
-
-
0027793048
-
Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample
-
Ghanem N, Costes B, Martin J, Vidaud M, Rothschild C, Foyer Gazengel C, Goossens M. Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample. Eur J Hum Genet 1993; 1: 144-55.
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 144-155
-
-
Ghanem, N.1
Costes, B.2
Martin, J.3
Vidaud, M.4
Rothschild, C.5
Foyer Gazengel, C.6
Goossens, M.7
-
7
-
-
85045500095
-
A simple method to attach a universal 50-bp GC-clamp to PCR fragments used for mutation analysis by DGGE
-
Top B. A simple method to attach a universal 50-bp GC-clamp to PCR fragments used for mutation analysis by DGGE. PCR Methods and Appl 1992; 2: 83-5.
-
(1992)
PCR Methods and Appl
, vol.2
, pp. 83-85
-
-
Top, B.1
-
8
-
-
0022422655
-
Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis
-
Myers RM, Fischer SG, Lerman LS, Maniatis T. Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis. Nucleic Acids Res 1985; 13: 3131-45.
-
(1985)
Nucleic Acids Res
, vol.13
, pp. 3131-3145
-
-
Myers, R.M.1
Fischer, S.G.2
Lerman, L.S.3
Maniatis, T.4
-
10
-
-
0025763422
-
Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction
-
Bowen DJ, Thomas P, Webb CE, Bignell P, Peake IR, Bloom AL. Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction. Br J Haematol 1991; 77: 559-60.
-
(1991)
Br J Haematol
, vol.77
, pp. 559-560
-
-
Bowen, D.J.1
Thomas, P.2
Webb, C.E.3
Bignell, P.4
Peake, I.R.5
Bloom, A.L.6
-
11
-
-
0024474977
-
The Malmo polymorphism of factor IX: Establishing the genotypes by rapid analysis of DNA
-
Graham JB, Kunkel GR, Tennyson GS, Lord ST, Fowlkes DM. The Malmo polymorphism of factor IX: establishing the genotypes by rapid analysis of DNA. Blood 1989; 73: 2104-7.
-
(1989)
Blood
, vol.73
, pp. 2104-2107
-
-
Graham, J.B.1
Kunkel, G.R.2
Tennyson, G.S.3
Lord, S.T.4
Fowlkes, D.M.5
-
12
-
-
0024500697
-
Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers
-
Winship PR, Rees DJ, Alkan M. Detection of polymorphisms at cytosine phosphoguanadine dinucleotides and diagnosis of haemophilia B carriers [see comments]. Lancet 1989; 1: 631-4.
-
(1989)
Lancet
, vol.1
, pp. 631-634
-
-
Winship, P.R.1
Rees, D.J.2
Alkan, M.3
-
13
-
-
0023476285
-
Detection and localization of single base changes by denaturing gradient gel electrophoresis
-
Myers R, Maniatis T, Lerman LS. Detection and localization of single base changes by denaturing gradient gel electrophoresis. Methods Enzymol 1987; 155: 501-27.
-
(1987)
Methods Enzymol
, vol.155
, pp. 501-527
-
-
Myers, R.1
Maniatis, T.2
Lerman, L.S.3
-
14
-
-
16944363988
-
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene
-
Macek M, Jr., Mercier B, Mackova A, Miller PW, Hamosh A, Ferec C, Cutting GR. Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in the CFTR gene. Hum Mutat 1997; 9: 136-47.
-
(1997)
Hum Mutat
, vol.9
, pp. 136-147
-
-
Macek M., Jr.1
Mercier, B.2
Mackova, A.3
Miller, P.W.4
Hamosh, A.5
Ferec, C.6
Cutting, G.R.7
-
15
-
-
0027169164
-
Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis
-
Tartary M, Vidaud D, Piao Y, Costa JM, Bahnak BR, Fressinaud E, Congard B, Laurian Y, Meyer D, Lavergne JM, et al. Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis. Br J Haematol 1993; 84: 662-9.
-
(1993)
Br J Haematol
, vol.84
, pp. 662-669
-
-
Tartary, M.1
Vidaud, D.2
Piao, Y.3
Costa, J.M.4
Bahnak, B.R.5
Fressinaud, E.6
Congard, B.7
Laurian, Y.8
Meyer, D.9
Lavergne, J.M.10
-
16
-
-
0025046236
-
A less severe form of Haemophilia B Leyden
-
Crossley M, Winship PR, Austen DE, Rizza CR, Brownlee GG. A less severe form of Haemophilia B Leyden. Nucleic Acids Res 1990; 18: 4633.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 4633
-
-
Crossley, M.1
Winship, P.R.2
Austen, D.E.3
Rizza, C.R.4
Brownlee, G.G.5
-
17
-
-
0025372113
-
Structural and functional basis of the developmental regulation of human coagulation factor IX gene: Factor IX Leyden
-
Hirosawa S, Fahner JB, Salier JP, Wu CT, Lovrien EW, Kurachi K. Structural and functional basis of the developmental regulation of human coagulation factor IX gene: factor IX Leyden. Proc Natl Acad Sci USA 1990; 87: 4421-5.
-
(1990)
Proc Natl Acad Sci USA
, vol.87
, pp. 4421-4425
-
-
Hirosawa, S.1
Fahner, J.B.2
Salier, J.P.3
Wu, C.T.4
Lovrien, E.W.5
Kurachi, K.6
-
18
-
-
0028987133
-
The high frequency of the -6G(A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide
-
Morgan GE, Figueiredo MS, Winship PR, Baker R, Bolton Maggs PH, Brownlee GG. The high frequency of the -6G(A factor IX promoter mutation is the result both of a founder effect and recurrent mutation at a CpG dinucleotide. Br J Haematol 1995; 89: 672-4.
-
(1995)
Br J Haematol
, vol.89
, pp. 672-674
-
-
Morgan, G.E.1
Figueiredo, M.S.2
Winship, P.R.3
Baker, R.4
Bolton Maggs, P.H.5
Brownlee, G.G.6
-
19
-
-
0029087058
-
Gene mutations and inhibitor formation in patients with hemophilia B
-
Ljung RC. Gene mutations and inhibitor formation in patients with hemophilia B. Acta Haematol 1995; 1:49-52.
-
(1995)
Acta Haematol
, vol.1
, pp. 49-52
-
-
Ljung, R.C.1
-
20
-
-
18844473466
-
Factor IX inhibitors and anaphylaxis in hemophilia B
-
Warrier I, Ewenstein BM, Koerper MA, Shapiro A, Key N, DiMichele D, Miller RT, Pasi J, Rivard GE, Sommer SS, Katz J, Bergmann F, Ljung R, Petrini P, Lusher JM. Factor IX inhibitors and anaphylaxis in hemophilia B. J Pediatr Hematol Oncol 1997; 19: 23-7.
-
(1997)
J Pediatr Hematol Oncol
, vol.19
, pp. 23-27
-
-
Warrier, I.1
Ewenstein, B.M.2
Koerper, M.A.3
Shapiro, A.4
Key, N.5
DiMichele, D.6
Miller, R.T.7
Pasi, J.8
Rivard, G.E.9
Sommer, S.S.10
Katz, J.11
Bergmann, F.12
Ljung, R.13
Petrini, P.14
Lusher, J.M.15
-
21
-
-
0031045680
-
HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors of factor VIII
-
Oldenburg J, Picard JK, Schwaab R, Brackmann HH, Tuddenham EG, Simpson E. HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors of factor VIII. Thromb Haemost 1997; 77: 238-42.
-
(1997)
Thromb Haemost
, vol.77
, pp. 238-242
-
-
Oldenburg, J.1
Picard, J.K.2
Schwaab, R.3
Brackmann, H.H.4
Tuddenham, E.G.5
Simpson, E.6
-
22
-
-
0031057651
-
HLA class II profile: A weak determinant of factor VIII inhibitor development in severe haemophilia A. UKHC-DO inhibitor working party
-
Hay CR, Ollier W, Pepper L, Cumming A, Keeney S, Goodeve AC, Colvin BT, Hill FG, Preston FE, Peake IR. HLA class II profile: a weak determinant of factor VIII inhibitor development in severe haemophilia A. UKHC-DO Inhibitor Working Party. Thromb Haemost 1997; 77: 234-7.
-
(1997)
Thromb Haemost
, vol.77
, pp. 234-237
-
-
Hay, C.R.1
Ollier, W.2
Pepper, L.3
Cumming, A.4
Keeney, S.5
Goodeve, A.C.6
Colvin, B.T.7
Hill, F.G.8
Preston, F.E.9
Peake, I.R.10
-
23
-
-
0025337460
-
The incidence and distribution of CpG→TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots
-
Green PM, Montandon AJ, Bentley DR, Ljung R, Nilsson IM, Giannelli F. The incidence and distribution of CpG→TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots. Nucleic Acids Res 1990; 18: 3227-31.
-
(1990)
Nucleic Acids Res
, vol.18
, pp. 3227-3231
-
-
Green, P.M.1
Montandon, A.J.2
Bentley, D.R.3
Ljung, R.4
Nilsson, I.M.5
Giannelli, F.6
-
24
-
-
0028345068
-
UK haemophilia centres. First report on UK database of haemophilia B mutations and pedigrees
-
Saad S, Rowley G, Tagliavacca L, Green PM, Giannelli F, UK haemophilia centres. First report on UK database of haemophilia B mutations and pedigrees. Thromb Haemost 1994; 71: 563-70.
-
(1994)
Thromb Haemost
, vol.71
, pp. 563-570
-
-
Saad, S.1
Rowley, G.2
Tagliavacca, L.3
Green, P.M.4
Giannelli, F.5
-
25
-
-
0000581643
-
The mutation rate of the gene for haemophilia and its segregation ratios in males and females
-
Haldane JBS. The mutation rate of the gene for haemophilia and its segregation ratios in males and females. Ann Eugenet (Lond) 13: 262-71.
-
Ann Eugenet (Lond)
, vol.13
, pp. 262-271
-
-
Haldane, J.B.S.1
-
26
-
-
0027292621
-
Recurrent mutations in the factor IX gene: Founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations
-
Knobloch O, Zoll B, Zerres K, Brackmann HH, Olek K, Ludwig M. Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations. Hum Genet 1993; 92: 40-8.
-
(1993)
Hum Genet
, vol.92
, pp. 40-48
-
-
Knobloch, O.1
Zoll, B.2
Zerres, K.3
Brackmann, H.H.4
Olek, K.5
Ludwig, M.6
-
27
-
-
0029043557
-
Structure of the calcium free Gla domain sheds light on membrane binding of blood coagulation proteins
-
Sunnerhagen M, Forsén S, Hoffrén AM, Drakenberg T, Teleman O, Stenflo J. Structure of the calcium free Gla domain sheds light on membrane binding of blood coagulation proteins. Nat Struct Biol 1995; 2: 504-9.
-
(1995)
Nat Struct Biol
, vol.2
, pp. 504-509
-
-
Sunnerhagen, M.1
Forsén, S.2
Hoffrén, A.M.3
Drakenberg, T.4
Teleman, O.5
Stenflo, J.6
-
30
-
-
0030610144
-
2+ binding to the first epidermal growth factor module of coagulation factor VIIa is important for cofactor interaction and proteolytic function
-
2+ binding to the first epidermal growth factor module of coagulation factor VIIa is important for cofactor interaction and proteolytic function. J Biol Chem 1997; 272: 17467-72.
-
(1997)
J Biol Chem
, vol.272
, pp. 17467-17472
-
-
Kelly, C.R.1
Dickinson, C.D.2
Ruf, W.3
-
31
-
-
0031972636
-
94 provide a link between both epidermal growth factor-like domains that is crucial in the interaction with factor VIII light chain
-
94 provide a link between both epidermal growth factor-like domains that is crucial in the interaction with factor VIII light chain. J Biol Chem 1998; 273: 222-7.
-
(1998)
J Biol Chem
, vol.273
, pp. 222-227
-
-
Christophe, O.D.1
Lenting, P.J.2
Kolkman, J.A.3
Brownlee, G.G.4
Mertens, K.5
-
32
-
-
0031972582
-
Consequences of factor IX mutations in 26 families with haemophilia B
-
Weinmann AF, Murphy ME, Thompson AR. Consequences of factor IX mutations in 26 families with haemophilia B. Br J Haematol 1998; 100: 58-61.
-
(1998)
Br J Haematol
, vol.100
, pp. 58-61
-
-
Weinmann, A.F.1
Murphy, M.E.2
Thompson, A.R.3
-
33
-
-
0031953132
-
In vivo site-directed mutagenesis of the factor IX gene by chimeric RNA/DNA oligonucleotides
-
Kren BT, Bandyopadhyay P, Steer CJ. In vivo site-directed mutagenesis of the factor IX gene by chimeric RNA/DNA oligonucleotides. Nat Med 1998; 4: 285-90.
-
(1998)
Nat Med
, vol.4
, pp. 285-290
-
-
Kren, B.T.1
Bandyopadhyay, P.2
Steer, C.J.3
|