메뉴 건너뛰기




Volumn 66, Issue 9, 2003, Pages 518-522

Rapid detection of intron 22 inversions of the factor VIII gene in Chinese patients with severe hemophilia A

Author keywords

Genetic couselling; Hemophila A; Inversion of intron 22; Polymerase chain reaction

Indexed keywords

BLOOD CLOTTING FACTOR 8; MESSENGER RNA;

EID: 0242575088     PISSN: 17264901     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (19)
  • 1
    • 0029089179 scopus 로고
    • Molecular genetics of coagulation factor VIII gene and hemophilia A
    • Antonarakis SE. Molecular genetics of coagulation factor VIII gene and hemophilia A. Thromb Hemost 1995;74:322-8.
    • (1995) Thromb. Hemost. , vol.74 , pp. 322-328
    • Antonarakis, S.E.1
  • 2
    • 0031804517 scopus 로고    scopus 로고
    • The factor VIII structure and mutation resorce site: HAMSTeRs version 4
    • Kemball-Cook G, Tuddenham EGD, Wacey AI. The factor VIII structure and mutation resorce site: HAMSTeRs version 4. Nucleic Acids Res 1998;26:216-9.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 216-219
    • Kemball-Cook, G.1    Tuddenham, E.G.D.2    Wacey, A.I.3
  • 3
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of hemophilia A
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of hemophilia A. Lancet 1992;340:1066-7.
    • (1992) Lancet , vol.340 , pp. 1066-1067
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 4
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian H, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993;5:236-41.
    • (1993) Nat. Genet. , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian, H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 5
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions
    • Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe hemophilia A is due to large DNA inversions. Hum Mol Genet 1993;2:1773-8.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 6
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in everyone of 28 hemophilia A patients
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in everyone of 28 hemophilia A patients. Hum Mol Genet 1993;2:11-7.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 11-17
    • Naylor, J.A.1    Green, P.M.2    Rizza, C.R.3    Giannelli, F.4
  • 7
    • 0027932694 scopus 로고
    • Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A: Implication for genetic counseling
    • Jenkins PV, Goldman CE, MccCraw A, Riddell CA, Lee CA, Pasi KJ. Analysis of intron 22 inversions of the factor VIII gene in severe hemophilia A: implication for genetic counseling. Blood 1994;84:2197-201.
    • (1994) Blood , vol.84 , pp. 2197-2201
    • Jenkins, P.V.1    Goldman, C.E.2    MccCraw, A.3    Riddell, C.A.4    Lee, C.A.5    Pasi, K.J.6
  • 8
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe hemophilia A: Result of an international consortium study
    • Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerioose P, Sommer SS, et al. Factor VIII gene inversions in severe hemophilia A: result of an international consortium study. Blood 1995;86:2206-12.
    • (1995) Blood , vol.86 , pp. 2206-2212
    • Antonarakis, S.E.1    Rossiter, J.P.2    Young, M.3    Horst, J.4    de Moerioose, P.5    Sommer, S.S.6
  • 9
    • 0028122895 scopus 로고
    • Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A
    • Windsor S, Taylor SAM, Lillicrap D. Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 1994;84:2202-5.
    • (1994) Blood , vol.84 , pp. 2202-2205
    • Windsor, S.1    Taylor, S.A.M.2    Lillicrap, D.3
  • 11
    • 0029047999 scopus 로고
    • Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions
    • Naylor JA, Buck D, Green P, Williamson H, Bentley D, Giannelli F. Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Hum Mol Genet 1995;4:1217-24.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1217-1224
    • Naylor, J.A.1    Buck, D.2    Green, P.3    Williamson, H.4    Bentley, D.5    Giannelli, F.6
  • 12
    • 0034103713 scopus 로고    scopus 로고
    • Diagnosis and follow-up of acute promyelocytic leukemia by detection of PML-RARa gene rearrangement
    • Gau, JP, Young H, Lin TH, Yang YS. Diagnosis and follow-up of acute promyelocytic leukemia by detection of PML-RARa gene rearrangement. J Chin Med Assoc 2000;63:175-81.
    • (2000) J. Chin. Med. Assoc. , vol.63 , pp. 175-181
    • Gau, J.P.1    Young, H.2    Lin, T.H.3    Yang, Y.S.4
  • 13
    • 0023277545 scopus 로고
    • Method for rapid isolation of total cellular RNA by gaunidine isothiocyanate in acidic phenol
    • Chomczynski P, Sacchi N. Method for rapid isolation of total cellular RNA by gaunidine isothiocyanate in acidic phenol. Anal Biochem 1987;162:156-9.
    • (1987) Anal. Biochem. , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 14
    • 0038014044 scopus 로고    scopus 로고
    • A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25
    • Gau JP, Hsu HC, Chau WK, Ho HC. A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25. Ann Hematol 2003-182:175-7.
    • (2003) Ann. Hematol. , vol.182 , pp. 175-177
    • Gau, J.P.1    Hsu, H.C.2    Chau, W.K.3    Ho, H.C.4
  • 16
    • 0025820639 scopus 로고
    • Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splce junctions of the factor VIII gene
    • Higuchi M, Kazazian H Jr, Kasch L, Warren, TC, McGinniss MJ, Phillips JA 3rd, et al. Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splce junctions of the factor VIII gene. Proc Natl Acad Sci USA 1991;88:7405-9.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 7405-7409
    • Higuchi, M.1    Kazazian Jr., H.2    Kasch, L.3    Warren, T.C.4    McGinniss, M.J.5    Phillips III, J.A.6
  • 17
    • 0032402122 scopus 로고    scopus 로고
    • The life cycle of coagulation factor VIII in view of its structure and function
    • Lenting PJ, van Mourik JA, Mertens K. The life cycle of coagulation factor VIII in view of its structure and function. Blood 1998;92:3983-96.
    • (1998) Blood , vol.92 , pp. 3983-3996
    • Lenting, P.J.1    van Mourik, J.A.2    Mertens, K.3
  • 18
    • 0027744053 scopus 로고
    • Characterization of genetic defects of hemophilia A in patients of Chinese origin
    • Lin SW, Lin SR, Shen MC. Characterization of genetic defects of hemophilia A in patients of Chinese origin. Genomics 1993;18:496-504.
    • (1993) Genomics , vol.18 , pp. 496-504
    • Lin, S.W.1    Lin, S.R.2    Shen, M.C.3
  • 19
    • 0028813558 scopus 로고
    • Inversion of intron 22 in isolated cases of severe hemophilia A
    • Tizzano EF, Domenech M, Baiget M. Inversion of intron 22 in isolated cases of severe hemophilia A. Thromb Hemost 1995;73:6-9.
    • (1995) Thromb. Hemost. , vol.73 , pp. 6-9
    • Tizzano, E.F.1    Domenech, M.2    Baiget, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.