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Volumn 6, Issue 11, 2008, Pages 1996-1999

Detection of large duplications within the factor VIII gene by MLPA 1

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8;

EID: 54149083581     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2008.03125.x     Document Type: Letter
Times cited : (49)

References (18)
  • 1
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH Jr, 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 Jr., H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 5
    • 0036389873 scopus 로고    scopus 로고
    • High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation
    • Citron M, Godmilow L, Ganguly T, Ganguly A. High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. Hum Mutat 2002; 20: 267-74.
    • (2002) Hum Mutat , vol.20 , pp. 267-274
    • Citron, M.1    Godmilow, L.2    Ganguly, T.3    Ganguly, A.4
  • 6
    • 0142259264 scopus 로고    scopus 로고
    • Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: Modeling of 13 novel amino acid substitutions
    • Habart D, Kalabova D, Novotny M, Vorlova Z. Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: Modeling of 13 novel amino acid substitutions. J Thromb Haemost 2003; 1: 773-81.
    • (2003) J Thromb Haemost , vol.1 , pp. 773-781
    • Habart, D.1    Kalabova, D.2    Novotny, M.3    Vorlova, Z.4
  • 7
    • 14344258535 scopus 로고    scopus 로고
    • Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A
    • Ahmed RP, Ivaskevicius V, Kannan M, Seifried E, Oldenburg J, Saxena R. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica 2005; 90: 283-4.
    • (2005) Haematologica , vol.90 , pp. 283-284
    • Ahmed, R.P.1    Ivaskevicius, V.2    Kannan, M.3    Seifried, E.4    Oldenburg, J.5    Saxena, R.6
  • 10
    • 0025424502 scopus 로고
    • Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A
    • Murru S, Casula L, Pecorara M, Mori P, Cao A, Pirastu M. Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A. Genomics 1990; 7: 115-8.
    • (1990) Genomics , vol.7 , pp. 115-118
    • Murru, S.1    Casula, L.2    Pecorara, M.3    Mori, P.4    Cao, A.5    Pirastu, M.6
  • 13
    • 3042527394 scopus 로고    scopus 로고
    • Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy
    • Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP. Duplication of exon 13 causes one third of the cases of mild hemophilia A in northern Italy. Haematologica 2004; 89: 758-9.
    • (2004) Haematologica , vol.89 , pp. 758-759
    • Acquila, M.1    Pasino, M.2    Lanza, T.3    Bottini, F.4    Molinari, A.C.5    Bicocchi, M.P.6
  • 14
    • 0036468807 scopus 로고    scopus 로고
    • Genome architecture, rearrangements and genomic disorders
    • Stankiewicz P & Lupski JR. Genome architecture, rearrangements and genomic disorders. Trends Genet 2002; 18: 74-82.
    • (2002) Trends Genet , vol.18 , pp. 74-82
    • Stankiewicz, P.1    Lupski, J.R.2
  • 15
    • 0025772873 scopus 로고
    • Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination
    • Hu XY, Ray PN, Worton RG. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J 1991; 10: 2471-7.
    • (1991) EMBO J , vol.10 , pp. 2471-2477
    • Hu, X.Y.1    Ray, P.N.2    Worton, R.G.3
  • 17
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    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance PF, Abbas N, Lensch MW, Pentao L, Roa BB, Patel PI, Lupski JR. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994; 3: 223-8.
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3    Pentao, L.4    Roa, B.B.5    Patel, P.I.6    Lupski, J.R.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.