메뉴 건너뛰기




Volumn 89, Issue 12, 2004, Pages 1498-1503

Molecular characterization of hemophilia B in North Indian families: Identification of novel and recurrent molecular events in the factor IX gene

Author keywords

Factor IX; Hemophilia B; Molecular events; North Indian

Indexed keywords

BLOOD CLOTTING FACTOR 9;

EID: 10444249529     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (12)

References (20)
  • 2
    • 2342562448 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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
  • 13
    • 0027368172 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고
    • 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 scopus 로고    scopus 로고
    • 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
  • 19
    • 0023631731 scopus 로고
    • 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 scopus 로고
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.