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Volumn 53, Issue 3, 2008, Pages 215-219

Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy

Author keywords

Duplication; Dystrophin; Mutation

Indexed keywords

DYSTROPHIN;

EID: 40049106043     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-007-0235-1     Document Type: Article
Times cited : (10)

References (13)
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  • 2
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    • Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
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  • 3
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    • Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms
    • Clemens P, Fenwick R, Chamberlain J, Gibbs R, de Andrade M, Chakraborty R, Caskey C (1991) Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Med Genet 49:951-960
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    • Clemens, P.1    Fenwick, R.2    Chamberlain, J.3    Gibbs, R.4    De Andrade, M.5    Chakraborty, R.6    Caskey, C.7
  • 4
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    • Pathways for mitotic homologous recombination in mammalian cells
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    • Helleday, T.1
  • 5
    • 0025320994 scopus 로고
    • Duplicational mutation at the Duchenne muscular dystrophy locus: Its frequency, distribution, origin, and phenotypegenotype correlation
    • Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG (1990) Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet 46:682-695
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    • Hu, X.Y.1    Ray, P.N.2    Murphy, E.G.3    Thompson, M.W.4    Worton, R.G.5
  • 6
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    • Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination
    • Hu XY, Ray PN, Worton RG (1991) Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. Embo J 10:2471-2477
    • (1991) Embo J , vol.10 , pp. 2471-2477
    • Hu, X.Y.1    Ray, P.N.2    Worton, R.G.3
  • 7
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    • MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: Potential and pitfalls
    • Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J (2005) MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 6:29-35
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    • Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe
    • Matsuo M, Masumura T, Nishio H, Nakajima T, Kitoh Y, Takumi T, Koga J, Nakamura H (1991) Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy Kobe. J Clin Invest 87:2127-2131
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.