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Volumn 9, Issue 2, 2003, Pages 187-192

Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene

Author keywords

Bleeding disorder; Cpg; Database; Factor IX; Haemophilia; Mutation

Indexed keywords

BLOOD CLOTTING FACTOR 9; COMPLEMENTARY DNA; METHIONINE; NUCLEOTIDE; THREONINE;

EID: 0037366668     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2516.2003.00727.x     Document Type: Article
Times cited : (17)

References (15)
  • 1
    • 0026583358 scopus 로고
    • Haemophilia B: Database of point mutations and short additions and deletions-third edition, 1992
    • Giannelli F, Green PM, High KA et al. Haemophilia B: database of point mutations and short additions and deletions-third edition, 1992. Nucleic Acids Res 1992; 20 Suppl: 2027-63.
    • (1992) Nucleic Acids Res. , vol.20 , Issue.SUPPL. , pp. 2027-2063
    • Giannelli, F.1    Green, P.M.2    High, K.A.3
  • 2
    • 0025125947 scopus 로고
    • Mutations causing hemophilia B: Direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene
    • Koeberl DD, Bottema CD, Ketterling RP, Bridge PJ, Lillicrap DP, Sommer SS. Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. Am J Hum Genet 1990; 47: 202-17.
    • (1990) Am. J. Hum. Genet. , vol.47 , pp. 202-217
    • Koeberl, D.D.1    Bottema, C.D.2    Ketterling, R.P.3    Bridge, P.J.4    Lillicrap, D.P.5    Sommer, S.S.6
  • 3
    • 0021750055 scopus 로고
    • Characterization of the human factor VIII gene
    • Gitschier J, Wood WI, Goralka TM et al. Characterization of the human factor VIII gene. Nature 1984; 312: 326-30.
    • (1984) Nature , vol.312 , pp. 326-330
    • Gitschier, J.1    Wood, W.I.2    Goralka, T.M.3
  • 4
    • 0022257323 scopus 로고
    • Nucleotide sequence of the gene for human factor IX (antihemophilic factor B)
    • Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic 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
  • 5
    • 0026735915 scopus 로고
    • Missense mutations and the magnitude of functional deficit: The example of factor IX
    • Sommer SS, Bowie EJ, Ketterling RP, Bottema CD. Missense mutations and the magnitude of functional deficit: the example of factor IX. Hum Genet 1992; 89: 295-7.
    • (1992) Hum. Genet. , vol.89 , pp. 295-297
    • Sommer, S.S.1    Bowie, E.J.2    Ketterling, R.P.3    Bottema, C.D.4
  • 6
    • 0019322245 scopus 로고
    • DNA methylation and the frequency of CpG in animal DNA
    • Bird AP. DNA methylation and the frequency of CpG in animal DNA. Nucleic Acids Res 1980; 8: 1499-504.
    • (1980) Nucleic Acids Res. , vol.8 , pp. 1499-1504
    • Bird, A.P.1
  • 7
    • 0028316109 scopus 로고
    • The rates of G:C > T:A and G:C > C:G transversions at CpG dinucleotides in the human factor IX gene
    • Ketterling RP, Vielhaber E, Sommer SS. The rates of G:C > T:A and G:C > C:G transversions at CpG dinucleotides in the human factor IX gene. Am J Hum Genet 1994; 54: 831-5.
    • (1994) Am. J. Hum. Genet. , vol.54 , pp. 831-835
    • Ketterling, R.P.1    Vielhaber, E.2    Sommer, S.S.3
  • 8
    • 0024422166 scopus 로고
    • Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG
    • Koeberl DD, Bottema CD, Buerstedde JM, Sommer SS. Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. Am J Hum Genet 1989; 45: 448-57.
    • (1989) Am. J. Hum. Genet. , vol.45 , pp. 448-457
    • Koeberl, D.D.1    Bottema, C.D.2    Buerstedde, J.M.3    Sommer, S.S.4
  • 10
    • 0031841277 scopus 로고    scopus 로고
    • Haemophilia B: Database of point mutations and short additions and deletions-eighth edition
    • Giannelli F, Green PM, Sommer SS et al. Haemophilia B: database of point mutations and short additions and deletions-eighth edition. Nucleic Acids Res 1998; 26: 265-8.
    • (1998) Nucleic Acids Res. , vol.26 , pp. 265-268
    • Giannelli, F.1    Green, P.M.2    Sommer, S.S.3
  • 11
    • 0033358737 scopus 로고    scopus 로고
    • Mutation rates in humans. Il. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B
    • Giannelli F, Anagnostopoulos T, Green PM. Mutation rates in humans. Il. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. Am J Hum Genet 1999; 65: 1580-7.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1580-1587
    • Giannelli, F.1    Anagnostopoulos, T.2    Green, P.M.3
  • 12
    • 0027327067 scopus 로고
    • The pattern of spontaneous germ-line mutation: Relative rates of mutation at or near CpG dinucleotides in the factor IX gene
    • Bottema CD, Ketterling RP, Vielhaber E, Yoon HS, Gostout B, Jacobson DP, et al. The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene. Hum Genet 1993; 91: 496-5O3.
    • (1993) Hum. Genet. , vol.91 , pp. 496-503
    • Bottema, C.D.1    Ketterling, R.P.2    Vielhaber, E.3    Yoon, H.S.4    Gostout, B.5    Jacobson, D.P.6
  • 13
    • 0025923464 scopus 로고
    • T296-M, a common mutation causing mild hemophilia B in the Amish and others: Founder effect, variability in factor IX activity assays, and rapid carrier detection
    • Ketterling RP, Bottema CD, Koeberl DD, Ii S, Sommer SS. T296-M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection. Hum Genet 1991; 87: 333-7.
    • (1991) Hum. Genet. , vol.87 , pp. 333-337
    • Ketterling, R.P.1    Bottema, C.D.2    Koeberl, D.D.3    Ii, S.4    Sommer, S.S.5
  • 14
    • 0033862158 scopus 로고    scopus 로고
    • Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans
    • Drost JB, Scaringe WA, Jaloma-Cruz AR et al. Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans. Hum Mutat 2000; 16: 203-10.
    • (2000) Hum. Mutat. , vol.16 , pp. 203-210
    • Drost, J.B.1    Scaringe, W.A.2    Jaloma-Cruz, A.R.3
  • 15
    • 0026211963 scopus 로고
    • Evidence that descendants of three founder constitute about 25% of haemophilia B in United States
    • Ketterling RP, Bottema CD, Koeberl DD, Ii S, Sommer SS Evidence that descendants of three founder constitute about 25% of haemophilia B in United States. Genomics 1991; 10: 1093-96.
    • (1991) Genomics , vol.10 , pp. 1093-1096
    • Ketterling, R.P.1    Bottema, C.D.2    Koeberl, D.D.3    Ii, S.4    Sommer, S.S.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.