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Volumn 103, Issue 5, 2010, Pages 1106-1108

Occurence of haemophilia A and B in a Chinese family with mosaicism of the F9 gene mutation in the HB index's maternal grandfather

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 9A; HISTONE; SERINE; SERINE PROTEINASE; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9;

EID: 77952068203     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-01-0017     Document Type: Letter
Times cited : (10)

References (13)
  • 1
    • 22744439187 scopus 로고    scopus 로고
    • The molecular analysis of haemophilia A: A guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network
    • DOI 10.1111/j.1365-2516.2005.01111.x
    • Keeney S, Mitchell M, Goodeve A. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors organization haemophilia genetics laboratory network. Haemophilia 2005; 11: 387-397. (Pubitemid 41030841)
    • (2005) Haemophilia , vol.11 , Issue.4 , pp. 387-397
    • Keeney, S.1    Mitchell, M.2    Goodeve, A.3
  • 2
    • 0035725163 scopus 로고    scopus 로고
    • Combined factor VIII and IX deficiency in a family
    • Shetty S, Ghosh K, Parekh S, et al. Combined factor VIII and IX deficiency in a family. Clin Lab. Haem 2001; 23: 201-204.
    • (2001) Clin Lab. Haem , vol.23 , pp. 201-204
    • Shetty, S.1    Ghosh, K.2    Parekh, S.3
  • 3
    • 50449102195 scopus 로고    scopus 로고
    • Carrier detection and prenatal diagnosis for hemophilia A
    • Wang XF, Liu YF, Li ZG, et al. Carrier detection and prenatal diagnosis for hemophilia A. Chin J Hematol 2001; 22: 117-120.
    • (2001) Chin J Hematol , vol.22 , pp. 117-120
    • Wang, X.F.1    Liu, Y.F.2    Li, Z.G.3
  • 4
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall RD, Waseem N, Green PM, et al. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168-174.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3
  • 5
    • 84925565170 scopus 로고    scopus 로고
    • Factor IX gene analysis in 19 unrelated patients with haemophilia B: Description of 5 new mutation
    • Dai J, Liu XF, Wang XF, et al. Factor IX gene analysis in 19 unrelated patients with haemophilia B: description of 5 new mutation. Chin J Lab Med 2005; 28: 1-3.
    • (2005) Chin J Lab Med , vol.28 , pp. 1-3
    • Dai, J.1    Liu, X.F.2    Wang, X.F.3
  • 6
    • 22744452382 scopus 로고    scopus 로고
    • The molecular analysis of haemophilia B: A guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network
    • DOI 10.1111/j.1365-2516.2005.01112.x
    • Mitchell M, Keeney S, Goodeve A. The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors'organization hae mophilia genetics laboratory network. Haemophilia 2005; 11: 398-404. (Pubitemid 41030842)
    • (2005) Haemophilia , vol.11 , Issue.4 , pp. 398-404
    • Mitchell, M.1    Keeney, S.2    Goodeve, A.3
  • 7
    • 33645961280 scopus 로고    scopus 로고
    • Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B
    • Bicocchi MP, Pasino M, Rosano C, et al. Insight into molecular changes of the FIX protein in a series of Italian patients with haemophilia B. Haemophilia 2006; 12: 263-270.
    • (2006) Haemophilia , vol.12 , pp. 263-270
    • Bicocchi, M.P.1    Pasino, M.2    Rosano, C.3
  • 8
    • 0031858612 scopus 로고    scopus 로고
    • The molecular basis of haemophilia B
    • Lillicrap D. The molecular basis of haemophilia B. Haemophilia 1998; 4: 350-357.
    • (1998) Haemophilia , vol.4 , pp. 350-357
    • Lillicrap, D.1
  • 9
    • 0036519359 scopus 로고    scopus 로고
    • Gene diagnosis of hemophilia B by multiple STR analysis
    • Liu XF, Wang XF, Fan QS, et al. Gene diagnosis of hemophilia B by multiple STR analysis. Chin J Hematol 2002; 23: 147-150.
    • (2002) Chin J Hematol , vol.23 , pp. 147-150
    • Liu, X.F.1    Wang, X.F.2    Fan, Q.S.3
  • 10
    • 0032845563 scopus 로고    scopus 로고
    • Origin of mutation in sporadic cases of haemophilia
    • Rolf CR, Ljung R, Elsy S. Origin of mutation in sporadic cases of haemophilia. Br J Haematol 1999; 106: 870-874.
    • (1999) Br J Haematol , vol.106 , pp. 870-874
    • Rolf, C.R.1    Ljung, R.2    Elsy, S.3
  • 11
    • 0034972486 scopus 로고    scopus 로고
    • Somatic mosaicism in hemophilia A: A fairly common event
    • Leuer M, Oldenburg J, Lavergne JM, et al. Somatic mosaicism in hemophilia A: a fairly common event.Am J Hum Genet 2001; 69: 75-87.
    • (2001) Am J Hum Genet , vol.69 , pp. 75-87
    • Leuer, M.1    Oldenburg, J.2    Lavergne, J.M.3
  • 12
    • 18744422146 scopus 로고    scopus 로고
    • Germline origins in the human F9 gene: Frequent G:C-A:T mosaicism and increased mutations with advanced maternal age
    • Ketterling RP, Vielhaber E, Li X, et al. Germline origins in the human F9 gene: frequent G:C-A:T mosaicism and increased mutations with advanced maternal age. Hum Genet 1999; 105: 629-640.
    • (1999) Hum Genet , vol.105 , pp. 629-640
    • Ketterling, R.P.1    Vielhaber, E.2    Li, X.3
  • 13
    • 0034667622 scopus 로고    scopus 로고
    • De novo factor VIII intron 22 inversion in a female carrier presents as a somatic mosaicism
    • Oldenburg J, Rost S, El-Maarri O, et al. De novo factor VIII intron 22 inversion in a female carrier presents as a somatic mosaicism. Blood 2000; 96: 2905-2906.
    • (2000) Blood , vol.96 , pp. 2905-2906
    • Oldenburg, J.1    Rost, S.2    El-Maarri, O.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.