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Volumn 11, Issue 11, 2013, Pages 2001-2008

Origin of Swedish hemophilia B mutations

Author keywords

Factor IX; Founder effect; Haplotypes; Hemophilia B; Mutation

Indexed keywords

ADULT; ARTICLE; CAPILLARY ELECTROPHORESIS; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENE FREQUENCY; GENE MAPPING; GENETIC MARKER; GENETIC RECOMBINATION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEMOPHILIA A; HEMOPHILIA B; HUMAN; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; QUALITY CONTROL; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; X CHROMOSOME; CPG ISLAND; FOUNDER EFFECT; GENE DELETION; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; REGISTER;

EID: 84887560677     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12410     Document Type: Article
Times cited : (11)

References (15)
  • 1
    • 84887523344 scopus 로고
    • Hemophilia B
    • Pagon RA, Bird TD, Dolan CR, Fong C-T, Stephens K., eds. Seattle, WA: University of Washington, Seattle; -2000 Oct 02 [updated 2011 Sep 22].
    • Konkle BA, Josephson NC, Nakaya Fletcher SM, Thompson AR. Hemophilia B. In: Pagon RA, Bird TD, Dolan CR, Fong C-T, Stephens K., eds. GeneReviews™ [Internet]. Seattle, WA: University of Washington, Seattle; 1993-2000 Oct 02 [updated 2011 Sep 22].
    • (1993) GeneReviews™ [Internet]
    • Konkle, B.A.1    Josephson, N.C.2    Nakaya Fletcher, S.M.3    Thompson, A.R.4
  • 2
    • 0021082518 scopus 로고
    • Deaths in Swedish hemophiliacs, 1957-1980
    • Larsson SA, Wiechel B. Deaths in Swedish hemophiliacs, 1957-1980. Acta Med Scand 1983; 214: 199-206.
    • (1983) Acta Med Scand , vol.214 , pp. 199-206
    • Larsson, S.A.1    Wiechel, B.2
  • 3
    • 0033555906 scopus 로고    scopus 로고
    • Tandem repeats finder: a program to analyze DNA sequences
    • Benson G. Tandem repeats finder: a program to analyze DNA sequences. Nucleic Acids Res 1999; 27: 573-80.
    • (1999) Nucleic Acids Res , vol.27 , pp. 573-580
    • Benson, G.1
  • 4
    • 2942726191 scopus 로고    scopus 로고
    • Estimating the age of rare disease mutations: the example of Triple-A syndrome
    • Genin E, Tullio-Pelet A, Begeot F, Lyonnet S, Abel L. Estimating the age of rare disease mutations: the example of Triple-A syndrome. J Med Genet 2004; 41: 445-9.
    • (2004) J Med Genet , vol.41 , pp. 445-449
    • Genin, E.1    Tullio-Pelet, A.2    Begeot, F.3    Lyonnet, S.4    Abel, L.5
  • 6
    • 0026735915 scopus 로고
    • Missense mutations and the magnitude of functional deficit: the example of factor IX
    • Sommer SS, Bowie EJW, Ketterling RP, Bottema CDK. 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.W.2    Ketterling, R.P.3    Bottema, C.D.K.4
  • 7
    • 0026211963 scopus 로고
    • Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States
    • Ketterling RP, Bottema CDK, Phillips JA III, Sommer SS. Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States. Genomics 1991; 10: 1093-6.
    • (1991) Genomics , vol.10 , pp. 1093-1096
    • Ketterling, R.P.1    Bottema, C.D.K.2    Phillips III, J.A.3    Sommer, S.S.4
  • 8
    • 0025923464 scopus 로고
    • 296-M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in the factor IX activity assays, and rapid carrier detection
    • 296-M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in the 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.K.2    Koeberl, D.D.3    Sommer, S.S.4
  • 9
    • 47649108641 scopus 로고    scopus 로고
    • Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect
    • Jenkins PV, Egan H, Keenan C, O'Shea E, Smith OP, Nolan B, White B, O'Donell J. Mutation analysis of haemophilia B in the Irish population: increased prevalence caused by founder effect. Haemophilia 2008; 14: 717-22.
    • (2008) Haemophilia , vol.14 , pp. 717-722
    • Jenkins, P.V.1    Egan, H.2    Keenan, C.3    O'Shea, E.4    Smith, O.P.5    Nolan, B.6    White, B.7    O'Donell, J.8
  • 10
    • 33947608488 scopus 로고    scopus 로고
    • A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia in the majority of the Gujarati population
    • Quadros L, Ghosh K, Shetty S. A common G10430A mutation (Gly 60 Ser) in the factor IX gene describes the presence of moderate and mild hemophilia in the majority of the Gujarati population. Ann Hematol 2007; 86: 377-9.
    • (2007) Ann Hematol , vol.86 , pp. 377-379
    • Quadros, L.1    Ghosh, K.2    Shetty, S.3
  • 11
    • 84887541382 scopus 로고
    • Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity
    • Green PM, Montandon AJ, Ljung R, Bentley DR, Nilsson I-M, Kling S, Gianelli F. Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity. Br J Haematol 1991; 75: 212-16.
    • (1991) Br J Haematol , vol.75 , pp. 212-216
    • Green, P.M.1    Montandon, A.J.2    Ljung, R.3    Bentley, D.R.4    Nilsson, I.-M.5    Kling, S.6    Gianelli, F.7
  • 12
    • 0027292621 scopus 로고
    • Recurrent mutations in the factor IX gene: founder effect or repeat de novo events
    • Knobloch O, Zoll B, Zerres K, Brackmann H-H, Olek K, Ludwig M. Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Hum Genet 1993; 92: 40-8.
    • (1993) Hum Genet , vol.92 , pp. 40-48
    • Knobloch, O.1    Zoll, B.2    Zerres, K.3    Brackmann, H.-H.4    Olek, K.5    Ludwig, M.6
  • 13
    • 1542649931 scopus 로고    scopus 로고
    • DNA variation in a 13-Mb region including the F9 gene: inferring the genealogical history and causal role of a haemophilia B mutation (IVS 5+13 A>G)
    • Anagnostopoulos T, Morris AP, Ayres KL, Giannelli F, Green PM. DNA variation in a 13-Mb region including the F9 gene: inferring the genealogical history and causal role of a haemophilia B mutation (IVS 5+13 A>G). J Thromb Haemost 2003; 1: 2609-14.
    • (2003) J Thromb Haemost , vol.1 , pp. 2609-2614
    • Anagnostopoulos, T.1    Morris, A.P.2    Ayres, K.L.3    Giannelli, F.4    Green, P.M.5
  • 15
    • 0032945504 scopus 로고    scopus 로고
    • Three widespread founder mutations contribute to high incidence of X-linked juvenile retinochisis in Finland
    • Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T. Three widespread founder mutations contribute to high incidence of X-linked juvenile retinochisis in Finland. Eur J Hum Genet 1999; 7: 368-76.
    • (1999) Eur J Hum Genet , vol.7 , pp. 368-376
    • Huopaniemi, L.1    Rantala, A.2    Forsius, H.3    Somer, M.4    de la Chapelle, A.5    Alitalo, T.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.