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Journal Abstract Search

333 related items for PubMed ID: 8322822

  • 1. Two distinct mutations in a single dystrophin gene: identification of an altered splice-site as the primary Becker muscular dystrophy mutation.
    Wilton SD, Johnsen RD, Pedretti JR, Laing NG.
    Am J Med Genet; 1993 Jun 15; 46(5):563-9. PubMed ID: 8322822
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  • 2. Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.
    Wilton SD, Chandler DC, Kakulas BA, Laing NG.
    Hum Mutat; 1994 Jun 15; 3(2):133-40. PubMed ID: 8199594
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  • 3. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y, Takeshima Y, Awano H, Okizuka Y, Zhang Z, Saiki K, Yagi M, Matsuo M.
    J Med Genet; 2009 Aug 15; 46(8):542-7. PubMed ID: 19001018
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  • 4. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation.
    Patria SY, Alimsardjono H, Nishio H, Takeshima Y, Nakamura H, Matsuo M.
    Proc Assoc Am Physicians; 1996 Jul 15; 108(4):308-14. PubMed ID: 8863344
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  • 5. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
    Graham IR, Hill VJ, Manoharan M, Inamati GB, Dickson G.
    J Gene Med; 2004 Oct 15; 6(10):1149-58. PubMed ID: 15386737
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  • 6. DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy.
    Hamed S, Sutherland-Smith A, Gorospe J, Kendrick-Jones J, Hoffman E.
    Clin Genet; 2005 Jul 15; 68(1):69-79. PubMed ID: 15952989
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  • 8. Two alternative exons can result from activation of the cryptic splice acceptor site deep within intron 2 of the dystrophin gene in a patient with as yet asymptomatic dystrophinopathy.
    Yagi M, Takeshima Y, Wada H, Nakamura H, Matsuo M.
    Hum Genet; 2003 Feb 15; 112(2):164-70. PubMed ID: 12522557
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  • 10. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
    Tuffery-Giraud S, Chambert S, Demaille J, Claustres M.
    Hum Mutat; 1999 Feb 15; 14(5):359-68. PubMed ID: 10533061
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  • 15. Characterization of genetic deletions in Becker muscular dystrophy using monoclonal antibodies against a deletion-prone region of dystrophin.
    Le Thiet Thanh, Nguyen Thi Man, Hori S, Sewry CA, Dubowitz V, Morris GE.
    Am J Med Genet; 1995 Aug 28; 58(2):177-86. PubMed ID: 8533812
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  • 16. Modulation of in vitro splicing of the upstream intron by modifying an intra-exon sequence which is deleted from the dystrophin gene in dystrophin Kobe.
    Takeshima Y, Nishio H, Sakamoto H, Nakamura H, Matsuo M.
    J Clin Invest; 1995 Feb 28; 95(2):515-20. PubMed ID: 7860733
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  • 18. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family.
    Ginjaar IB, Kneppers AL, v d Meulen JD, Anderson LV, Bremmer-Bout M, van Deutekom JC, Weegenaar J, den Dunnen JT, Bakker E.
    Eur J Hum Genet; 2000 Oct 28; 8(10):793-6. PubMed ID: 11039581
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