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Volumn 3, Issue 3, 1997, Pages 177-182

Analysis of the haemophilia a mutation in sporadic patients registered at the Royal London Hospital and their families

Author keywords

Haemophilia A; Mutations; Sporadic haemophilia

Indexed keywords

ARTICLE; DISEASE SEVERITY; FAMILY; GENE MUTATION; GONAD; HEMOPHILIA A; HUMAN; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0030765117     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.1997.00089.x     Document Type: Article
Times cited : (4)

References (23)
  • 1
    • 0008602298 scopus 로고
    • Molecular genetics of haemophilia A and B
    • Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Edinburgh: Churchill Livingstone
    • Tuddenham EGD, Giannelli F. Molecular genetics of haemophilia A and B. In: Bloom AL, Forbes CD, Thomas DP, Tuddenham EGD, eds. Haemostasis and Thrombosis, 3rd edn. Edinburgh: Churchill Livingstone, 1994, 859-86.
    • (1994) Haemostasis and Thrombosis, 3rd Edn. , pp. 859-886
    • Tuddenham, E.G.D.1    Giannelli, F.2
  • 2
    • 77951509701 scopus 로고
    • The rate of spontaneous mutation of a human gene
    • Haldane JBS. The rate of spontaneous mutation of a human gene. J Genet 1935; 31: 317-26.
    • (1935) J Genet , vol.31 , pp. 317-326
    • Haldane, J.B.S.1
  • 3
  • 4
    • 0028857347 scopus 로고
    • The hemophilias
    • Hall JC, Dunlop JC, Friedmann T, Giannelli F, eds. San Diego: Academic Press
    • Green PM, Naylor JA, Giannelli F. The hemophilias. In: Hall JC, Dunlop JC, Friedmann T, Giannelli F, eds. Advances in Genetics, Vol. 32. San Diego: Academic Press, 1995, 99-139.
    • (1995) Advances in Genetics , vol.32 , pp. 99-139
    • Green, P.M.1    Naylor, J.A.2    Giannelli, F.3
  • 5
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 6
    • 0023277545 scopus 로고
    • Single-step method of RNA extraction by acid guanidium thiocyanate-phenol-chloroform extraction
    • Chomczynski P, Sacchi N. Single-step method of RNA extraction by acid guanidium thiocyanate-phenol-chloroform extraction. Anal Biohem 1987; 162: 156-9.
    • (1987) Anal Biohem , vol.162 , pp. 156-159
    • Chomczynski, P.1    Sacchi, N.2
  • 7
    • 0025978384 scopus 로고
    • Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene
    • Naylor JA, Green PM, Montandon AJ, Rizza CR, Giannelli F. Detection of three novel mutations in two haemophilia A patients by rapidly screening whole essential regions of the factor VIII gene. Lancet 1991; 337: 635-9.
    • (1991) Lancet , vol.337 , pp. 635-639
    • Naylor, J.A.1    Green, P.M.2    Montandon, A.J.3    Rizza, C.R.4    Giannelli, F.5
  • 8
    • 0024605060 scopus 로고
    • Direct detection of point mutations by mismatch analysis: Application to haemophilia B
    • Montandon AJ, Green PM, Giannelli F, Bentley DR. Direct detection of point mutations by mismatch analysis: application to haemophilia B. Nucl Acids Res 1989; 17: 3347-58.
    • (1989) Nucl Acids Res , vol.17 , pp. 3347-3358
    • Montandon, A.J.1    Green, P.M.2    Giannelli, F.3    Bentley, D.R.4
  • 10
    • 0026730499 scopus 로고
    • Factor VIII gene explains all cases of haemophilia A
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Factor VIII gene explains all cases of haemophilia 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
  • 11
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A
    • Lackich D, Kazazian HH, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene as a common cause of severe hemophilia A. Nature Genet 1993; 5: 236-41.
    • (1993) Nature Genet , vol.5 , pp. 236-241
    • Lackich, D.1    Kazazian, H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 12
    • 0027340359 scopus 로고
    • Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia A patients
    • Naylor JA, Green PM, Rizza CR, Giannelli F. Analysis of factor VIII mRNA reveals defects in every one of 28 haemophilia 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
  • 13
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe haemophilia 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 haemophilia 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
  • 14
    • 0029047999 scopus 로고
    • Investigation of the factor VIII intron 22 repeated region (int 22h) 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 (int 22h) 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
  • 15
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe hemophilia A: Results of an international consortium study
    • Antonarakis SE, Rossiter JP, Young M, et al. Factor VIII gene inversions in severe hemophilia A: results 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
  • 16
    • 0028031538 scopus 로고
    • Haemophilia A: Database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition
    • Tuddenham EGD, Schwaab R, Seehafer J, et al. Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition. Nucl Acids Res 1994; 22: 4851-68.
    • (1994) Nucl Acids Res , vol.22 , pp. 4851-4868
    • Tuddenham, E.G.D.1    Schwaab, R.2    Seehafer, J.3
  • 17
    • 0029979389 scopus 로고    scopus 로고
    • A genetic view on the etiology of the inhibitor complication
    • Giannelli F, Green PM, Naylor JA. A genetic view on the etiology of the inhibitor complication. Blood 1996; 87: 2612.
    • (1996) Blood , vol.87 , pp. 2612
    • Giannelli, F.1    Green, P.M.2    Naylor, J.A.3
  • 18
    • 0021677942 scopus 로고
    • Structure of human factor VIII
    • Vehar GA, Keyt B, Eaton D, et al. Structure of human factor VIII. Nature 1984; 312: 337-47.
    • (1984) Nature , vol.312 , pp. 337-347
    • Vehar, G.A.1    Keyt, B.2    Eaton, D.3
  • 19
    • 0023918199 scopus 로고
    • Blood coagulation factors V and VIII: Structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders
    • Kane WH, Davie EW. Blood coagulation factors V and VIII: structural and functional similarities and their relationship to hemorrhagic and thrombotic disorders. Blood 1988; 71: 539-55.
    • (1988) Blood , vol.71 , pp. 539-555
    • Kane, W.H.1    Davie, E.W.2
  • 20
    • 0026664109 scopus 로고
    • Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and the ratio of the sex-specific mutation rates in Sweden
    • Montandon AJ, Green PM, Bentley DR, et al. Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and the ratio of the sex-specific mutation rates in Sweden. Hum Genet 1992; 89: 319-22.
    • (1992) Hum Genet , vol.89 , pp. 319-322
    • Montandon, A.J.1    Green, P.M.2    Bentley, D.R.3
  • 21
    • 0027405870 scopus 로고
    • Germ-line origins of mutation in families with haemophilia B: The sex ratio varies with the type of mutations
    • Ketterling RP, Vielhaber E, Bottema CDK, et al. Germ-line origins of mutation in families with haemophilia B: the sex ratio varies with the type of mutations. Am J Hum Genet 1993; 52: 156-66.
    • (1993) Am J Hum Genet , vol.52 , pp. 156-166
    • Ketterling, R.P.1    Vielhaber, E.2    Bottema, C.D.K.3
  • 22
    • 0028180964 scopus 로고
    • Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells
    • Rossiter JP, Young M, Kinberland ML, et al. Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet 1994; 3: 1035-39.
    • (1994) Hum Mol Genet , vol.3 , pp. 1035-1039
    • Rossiter, J.P.1    Young, M.2    Kinberland, M.L.3
  • 23
    • 0029865410 scopus 로고    scopus 로고
    • Characterisation of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutations frequencies
    • Becker J, Schwaab R, Möller-Taube A, et al. Characterisation of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutations frequencies. Am J Hum Genet 1996; 58: 657-70.
    • (1996) Am J Hum Genet , vol.58 , pp. 657-670
    • Becker, J.1    Schwaab, R.2    Möller-Taube, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.