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Volumn 33, Issue 7, 1996, Pages 550-558

Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis

Author keywords

Carrier diagnosis; Duchenne muscular dystrophy; Quantitative PCR

Indexed keywords

DYSTROPHIN;

EID: 0030016279     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.7.550     Document Type: Article
Times cited : (147)

References (12)
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    • Hodgson, S.V.1    Hart, K.2    Abbs, S.3
  • 2
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    • The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
    • Koenig M, Beggs AH, Moyer M, et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989;45:498-506.
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  • 3
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    • Duplication mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotype genotype correlation
    • Hu X, Ray PN, Murphy E, Thompson MW, Worton RG. Duplication mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype genotype correlation. Am J Hum Genet 1990;46:682-95.
    • (1990) Am J Hum Genet , vol.46 , pp. 682-695
    • Hu, X.1    Ray, P.N.2    Murphy, E.3    Thompson, M.W.4    Worton, R.G.5
  • 4
    • 0024815723 scopus 로고
    • Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplication
    • Den Dunnen JT, Grootscholten PM, Bakker E, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplication. Am J Hum Genet 1989;45:835-17.
    • (1989) Am J Hum Genet , vol.45 , pp. 835-917
    • Den Dunnen, J.T.1    Grootscholten, P.M.2    Bakker, E.3
  • 5
    • 0025774523 scopus 로고
    • A convenient multiplex PCR system for the detection of dystrophin gene deletions: A comparative analysis with cDNA hybridisation reveals mistypings by both methods
    • Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M. A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation reveals mistypings by both methods. J Med Genet 1991;28:304-11.
    • (1991) J Med Genet , vol.28 , pp. 304-311
    • Abbs, S.1    Yau, S.C.2    Clark, S.3    Mathew, C.G.4    Bobrow, M.5
  • 6
    • 0027257555 scopus 로고
    • Report on the 16th ENMC workshop - Carrier diagnosis of Duchenne and Becker muscular dystrophy
    • Abbs S, Bobrow M. Report on the 16th ENMC workshop - carrier diagnosis of Duchenne and Becker muscular dystrophy. Neuromusc Disord 1993;3:241-2.
    • (1993) Neuromusc Disord , vol.3 , pp. 241-242
    • Abbs, S.1    Bobrow, M.2
  • 7
    • 0023194295 scopus 로고
    • Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels
    • Den Dunnen JT, Bakker E, Klein Breteler EG, Pearson PL, van Ommen GJB. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature 1987;329:640-2.
    • (1987) Nature , vol.329 , pp. 640-642
    • Den Dunnen, J.T.1    Bakker, E.2    Klein Breteler, E.G.3    Pearson, P.L.4    Van Ommen, G.J.B.5
  • 8
    • 0024369741 scopus 로고
    • High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization
    • Blonden LAJ, den Dunnen JT, van Passen HMB, et al. High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucleic Acids Res 1989;17:5611-21.
    • (1989) Nucleic Acids Res , vol.17 , pp. 5611-5621
    • Blonden, L.A.J.1    Den Dunnen, J.T.2    Van Passen, H.M.B.3
  • 9
    • 0025642715 scopus 로고
    • Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA
    • Roberts RG, Bentley DR, Barby TM, Manners E, Bobrow M. Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. Lancet 1990;ii:1523-6.
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  • 10
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    • Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes
    • Roberts RG, Barby TFM, Manners E, Bobrow M, Bentley DR. Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet 1991;49:298-310.
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  • 12
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    • Direct carrier detection by in situ suppression hybridisation with cosmid clones of the Duchenne/Becker muscular dystrophy locus
    • Reid T, Mahler V, Vogt P, et al. Direct carrier detection by in situ suppression hybridisation with cosmid clones of the Duchenne/Becker muscular dystrophy locus. Hum Genet 1990;85:581-6.
    • (1990) Hum Genet , vol.85 , pp. 581-586
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.