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Journal Abstract Search

564 related items for PubMed ID: 15979033

  • 1. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
    Thi Tran HT, Takeshima Y, Surono A, Yagi M, Wada H, Matsuo M.
    Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
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  • 3. 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; 112(2):164-70. PubMed ID: 12522557
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  • 6. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
    Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN.
    Neuromuscul Disord; 2009 Mar; 19(3):189-92. PubMed ID: 19230662
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  • 10. Novel cryptic exons identified in introns 2 and 3 of the human dystrophin gene with duplication of exons 8-11.
    Ishibashi K, Takeshima Y, Yagi M, Nishiyama A, Matsuo M.
    Kobe J Med Sci; 2006 Mar; 52(3-4):61-75. PubMed ID: 16849873
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  • 11. Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.
    Narita N, Nishio H, Kitoh Y, Ishikawa Y, Ishikawa Y, Minami R, Nakamura H, Matsuo M.
    J Clin Invest; 1993 May; 91(5):1862-7. PubMed ID: 8387534
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  • 13. Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.
    Tran VK, Takeshima Y, Zhang Z, Yagi M, Nishiyama A, Habara Y, Matsuo M.
    J Med Genet; 2006 Dec; 43(12):924-30. PubMed ID: 16738009
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  • 16. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutations in brief no. 213. Online.
    Ikezawa M, Nishino I, Goto Y, Miike T, Nonaka I.
    Hum Mutat; 1999 Dec; 13(2):170. PubMed ID: 10094556
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  • 18. A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype.
    Sironi M, Corti S, Locatelli F, Cagliani R, Comi GP.
    Hum Mutat; 2001 Mar; 17(3):239. PubMed ID: 11241855
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