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Volumn 48, Issue 2, 1997, Pages 486-488

Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DYSTROPHIN;

EID: 0031038385     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.2.486     Document Type: Article
Times cited : (28)

References (12)
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    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Kp, H.2    Boitclson, C.J.3
  • 2
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    • Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of mutations
    • Darras BT, Blattner P, Harper JF, et al. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of mutations. Am J Hum Genet 1988;43:620-629.
    • (1988) Am J Hum Genet , vol.43 , pp. 620-629
    • Darras, B.T.1    Blattner, P.2    Harper, J.F.3
  • 3
    • 0023957073 scopus 로고
    • Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
    • Forrest SM, Cross GS, Flint T, et al. Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 1988;2:109-114.
    • (1988) Genomics , vol.2 , pp. 109-114
    • Forrest, S.M.1    Cross, G.S.2    Flint, T.3
  • 4
    • 0024430346 scopus 로고
    • Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
    • Gillard EF, Chamberlain JS, Murphy EG, et al. Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 1989;45:507-520.
    • (1989) Am J Hum Genet , vol.45 , pp. 507-520
    • Gillard, E.F.1    Chamberlain, J.S.2    Murphy, E.G.3
  • 5
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin and phenotype/genotype correlation
    • Hu X, Ray PN, Murphy EG, et al. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin and phenotype/genotype correlation. Am J Hum Genet 1990;46:682-695.
    • (1990) Am J Hum Genet , vol.46 , pp. 682-695
    • Hu, X.1    Ray, P.N.2    Murphy, E.G.3
  • 6
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco AP, Bertelson CJ, Liechti-Gallati S, et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988;2:90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3
  • 7
    • 0024447280 scopus 로고
    • Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy
    • Hodgson S, Hart K, Abbs S, et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. Am J Hum Genet 1989;26:682-693.
    • (1989) Am J Hum Genet , vol.26 , pp. 682-693
    • Hodgson, S.1    Hart, K.2    Abbs, S.3
  • 8
    • 0024580404 scopus 로고
    • Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
    • Baumbach LL, Chamberlain JS, Ward PA, et al. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 1989;39:465-474.
    • (1989) Neurology , vol.39 , pp. 465-474
    • Baumbach, L.L.1    Chamberlain, J.S.2    Ward, P.A.3
  • 9
    • 0027207248 scopus 로고
    • Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
    • Winnard AV, Klein CJ, Coovert DD, et al. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet 1993;2:737-744.
    • (1993) Hum Mol Genet , vol.2 , pp. 737-744
    • Winnard, A.V.1    Klein, C.J.2    Coovert, D.D.3
  • 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, et al. 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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  • 11
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    • Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy
    • Burrow K, Coovert DD, Klein CJ, et al. Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. Neurology 1991;41:662-666.
    • (1991) Neurology , vol.41 , pp. 662-666
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  • 12
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    • Somatic reversion/ suppression in Duchenne muscular dystrophy (DMD): Evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
    • Klein CJ, Coovert DD, Bulman DE, et al. Somatic reversion/ suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet 1992;50:950-959.
    • (1992) Am J Hum Genet , vol.50 , pp. 950-959
    • Klein, C.J.1    Coovert, D.D.2    Bulman, D.E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.