-
2
-
-
2342562448
-
Molecular pathology of haemophilia B: Identification of five novel mutations including a LINE 1 insertion in Indian patients
-
Mukherjee S, Mukhopadhyay A, Banerjee D, Chandak GR, Ray K. Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients. Haemophilia 2004;10:259-63.
-
(2004)
Haemophilia
, vol.10
, pp. 259-263
-
-
Mukherjee, S.1
Mukhopadhyay, A.2
Banerjee, D.3
Chandak, G.R.4
Ray, K.5
-
3
-
-
0037608693
-
Molecular analyses in hemophilia B families: Identification of six new mutations in the factor IX gene
-
Espinos C, Casana P, Haya S, Cid AR, Aznar JA. Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. Haematologica 2003;88:235-6.
-
(2003)
Haematologica
, vol.88
, pp. 235-236
-
-
Espinos, C.1
Casana, P.2
Haya, S.3
Cid, A.R.4
Aznar, J.A.5
-
4
-
-
0345701968
-
Molecular pathology of haemophilia B in Turkish patients: Identification of a large deletion and 33 independent point mutations
-
Onay UV, Kavakli K, Kilinc Y, Gurgey A, Aktuglu G, Kemahli S, et al. Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations. Br J Haematol 2003;120:656-9.
-
(2003)
Br J Haematol
, vol.120
, pp. 656-659
-
-
Onay, U.V.1
Kavakli, K.2
Kilinc, Y.3
Gurgey, A.4
Aktuglu, G.5
Kemahli, S.6
-
5
-
-
0036218048
-
Haemophilia A and haemophilia B; molecular insights
-
Bowen DJ. Haemophilia A and haemophilia B; molecular insights. Mol Pathol 2002;55:127-44.
-
(2002)
Mol Pathol
, vol.55
, pp. 127-144
-
-
Bowen, D.J.1
-
6
-
-
0022500039
-
Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4
-
Bentley AK, Rees DJ, Rizza C, Brownlee GG. Defective propeptide processing of blood clotting factor IX caused by mutation of arginine to glutamine at position -4. Cell 1986;45:343-8.
-
(1986)
Cell
, vol.45
, pp. 343-348
-
-
Bentley, A.K.1
Rees, D.J.2
Rizza, C.3
Brownlee, G.G.4
-
7
-
-
0023667781
-
Recognition site directing vitamin K-dependent γ-carboxylation resides on the propeptide of factor IX
-
Jorgensen MJ, Cantor AB, Furie BC, Brown CL, Shoemaker CB, Furie B. Recognition site directing vitamin K-dependent γ-carboxylation resides on the propeptide of factor IX. Cell 1987;48:185-91.
-
(1987)
Cell
, vol.48
, pp. 185-191
-
-
Jorgensen, M.J.1
Cantor, A.B.2
Furie, B.C.3
Brown, C.L.4
Shoemaker, C.B.5
Furie, B.6
-
8
-
-
0026660188
-
The binding of human factor IX to endothelial cells is mediated by residues 3-11
-
Cheung WF, Hamaguchi N, Smith KJ, Stafford DW. The binding of human factor IX to endothelial cells is mediated by residues 3-11. J Biol Chem 1992;267:20529-31.
-
(1992)
J Biol Chem
, vol.267
, pp. 20529-20531
-
-
Cheung, W.F.1
Hamaguchi, N.2
Smith, K.J.3
Stafford, D.W.4
-
10
-
-
0022257323
-
Nucleotide sequence of the gene for human factor IX (anti-hemophilic factor B)
-
Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (anti-hemophilic 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
-
11
-
-
0030768937
-
+ binding site, proteolysis in the autolysis loop, phospholipid, and factor X
-
+ binding site, proteolysis in the autolysis loop, phospholipid, and factor X. J Biol Chem 1997;272:23418-26.
-
(1997)
J Biol Chem
, vol.272
, pp. 23418-23426
-
-
Mathur, A.1
Zhong, D.2
Sabharwal, A.K.3
Smith, K.J.4
Bajaj, S.P.5
-
13
-
-
0027368172
-
Factor IX Fukuoka. Substitution of Asn92 by His in the second epidermal growth factor-like domain results in defective interaction with factors VIIa/X
-
Nishimura H, Takeya H, Miyata T, Suehiro K, Okamura T, Niho Y, et al. Factor IX Fukuoka. Substitution of Asn92 by His in the second epidermal growth factor-like domain results in defective interaction with factors VIIa/X. J Biol Chem 1993;268:24041-6.
-
(1993)
J Biol Chem
, vol.268
, pp. 24041-24046
-
-
Nishimura, H.1
Takeya, H.2
Miyata, T.3
Suehiro, K.4
Okamura, T.5
Niho, Y.6
-
14
-
-
0037067745
-
Identification of functionally important residues of epidermal growth factor-2 domain of factor IX by alanine-scanning mutagenesis. Residues Asn (89)-Gly (93) are critical for binding factor VIIIa
-
Chang YJ, Wu HL, Hamaguchi N, Hsu YC, Lin SW. Identification of functionally important residues of epidermal growth factor-2 domain of factor IX by alanine-scanning mutagenesis. Residues Asn (89)-Gly (93) are critical for binding factor VIIIa. J Biol Chem 2002;277:25393-9.
-
(2002)
J Biol Chem
, vol.277
, pp. 25393-25399
-
-
Chang, Y.J.1
Wu, H.L.2
Hamaguchi, N.3
Hsu, Y.C.4
Lin, S.W.5
-
15
-
-
0026013694
-
Identification of haemophilia B with mutations in two calcium binding domains of factor IX: Importance of a -OH Asp64 Asn change
-
Winship PR, Dragon AC. Identification of haemophilia B with mutations in two calcium binding domains of factor IX: importance of a -OH Asp64 Asn change. Br J Haematol 1991;77:102-9.
-
(1991)
Br J Haematol
, vol.77
, pp. 102-109
-
-
Winship, P.R.1
Dragon, A.C.2
-
16
-
-
10444259846
-
Molecular biology of hemophilias
-
Coller BS, eds. Pennsylvania: WB Saunders Company
-
Thompson AR. Molecular biology of hemophilias. In: Coller BS, eds. Progress in hemostasis and thrombosis. Pennsylvania: WB Saunders Company. 1990.
-
(1990)
Progress in Hemostasis and Thrombosis
-
-
Thompson, A.R.1
-
17
-
-
0032588632
-
Reported in vivo splice-site mutations in the factor IX gene: Severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations
-
Ketterling RP, Drost JB, Scaringe WA, Liao DZ, Liu JZ, Kasper CK, et al. Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations. Hum Mutat 1999;13:221-31.
-
(1999)
Hum Mutat
, vol.13
, pp. 221-231
-
-
Ketterling, R.P.1
Drost, J.B.2
Scaringe, W.A.3
Liao, D.Z.4
Liu, J.Z.5
Kasper, C.K.6
-
18
-
-
0021926211
-
Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX
-
McGraw RA, Davis LM, Noyes CM, Lundblad RL, Roberts HR, Graham JB, et al. Evidence for a prevalent dimorphism in the activation peptide of human coagulation factor IX. Proc Natl Acad Sci USA 1985;82:2847-51.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 2847-2851
-
-
McGraw, R.A.1
Davis, L.M.2
Noyes, C.M.3
Lundblad, R.L.4
Roberts, H.R.5
Graham, J.B.6
-
19
-
-
0023631731
-
Carrier testing in hemophilia B with an immunoassay which distinguishes a prevalent factor IX dimorphism
-
Smith KJ, Thompson AR, McMullen BA, Frazier D, Lin SW, Stafford D, et al. Carrier testing in hemophilia B with an immunoassay which distinguishes a prevalent factor IX dimorphism. Blood 1987;70:1006-13.
-
(1987)
Blood
, vol.70
, pp. 1006-1013
-
-
Smith, K.J.1
Thompson, A.R.2
McMullen, B.A.3
Frazier, D.4
Lin, S.W.5
Stafford, D.6
-
20
-
-
0025948892
-
Missense mutations and evolutionary conservation of aminoacids: Evidence that many of the aminoacids in factor IX function as "spacer" elements
-
Bottema CD, Ketterling RP, Ii S, Yoon HS, Phillips JA, Sommer SS. Missense mutations and evolutionary conservation of aminoacids: evidence that many of the aminoacids in factor IX function as "spacer" elements. Am J Hum Genet 1991;49:820-38.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 820-838
-
-
Bottema, C.D.1
Ketterling, R.P.2
Ii, S.3
Yoon, H.S.4
Phillips, J.A.5
Sommer, S.S.6
|