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Journal Abstract Search

153 related items for PubMed ID: 20555341

  • 1. Commentary on 'Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center'.
    Kondo-Iida E.
    J Hum Genet; 2010 Sep; 55(9):555-6. PubMed ID: 20555341
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  • 2. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
    Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M.
    J Hum Genet; 2010 Jun; 55(6):379-88. PubMed ID: 20485447
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  • 6. 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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  • 8. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene.
    Ashton EJ, Yau SC, Deans ZC, Abbs SJ.
    Eur J Hum Genet; 2008 Jan 15; 16(1):53-61. PubMed ID: 17726484
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  • 11. [From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].
    den Dunnen JT, de Visser M, Bakker E.
    Ned Tijdschr Geneeskd; 2002 Feb 23; 146(8):364-7. PubMed ID: 11887623
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  • 13. [The distribution of deletions in the dystrophin gene in patients with Duchenne muscular dystrophy in Ukraine].
    Grishko VI, Maliarchuk SG, Livshits LA.
    Tsitol Genet; 1993 Feb 23; 27(2):68-71. PubMed ID: 8212329
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  • 16. Novel human pathological mutations. Gene symbol: DMD. Disease: muscular dystrophy, Duchenne.
    Garcia-Planells J, Torres-Puente M, Vilchez JJ, Perez-Alonso M.
    Hum Genet; 2009 Aug 23; 126(2):338. PubMed ID: 19694014
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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 23; 17(3):239. PubMed ID: 11241855
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