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[文献書誌] Saito-Ohara F, Fukuda Y, Ito M, Agarwala K, Hayashi M, Matsuo M, Imoto I, Yamakawa K, Nakamura Y, Inazawa J.: "The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation"Am J Hum Genet.. 71. 637-645 (2002)
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[文献書誌] Suminaga R, Takeshima Y, Adachi K, Yagi M, Nakamura H, Matsuo M.: "A novel cryptic exon in intron III of the dystrophin gene was incorporated into dystrophin mRNA with a single nucleotide deletion in exon 5"J Hum Genet.. 47. 196-201 (2002)
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[文献書誌] Matsuo M.: "Duchenne and Becker muscular dystrophy : from gene diagnosis to molecular therapy"IUBMB Life. 53. 147-152 (2002)
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[文献書誌] Adachi K, Takeshima Y, Wada H, Yagi M, Nakamura H, Matsuo M.: "Heterogous dystrophin mRNA produced by a novel splice acceptor site mutation in intermediate dystrophinopathy"Pediatr Res.. 53. 125-131 (2003)
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[文献書誌] Yagi M, Takeshima Y, Nakamura H, Matsuo M.: "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"Hum Genet.. 112. 164-170 (2003)