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Journal Abstract Search

601 related items for PubMed ID: 11795488

  • 1. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients.
    Chaturvedi LS, Mukherjee M, Srivastava S, Mittal RD, Mittal B.
    Exp Mol Med; 2001 Dec 31; 33(4):251-6. PubMed ID: 11795488
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  • 2. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
    Eraslan S, Kayserili H, Apak MY, Kirdar B.
    Eur J Hum Genet; 1999 Dec 31; 7(7):765-70. PubMed ID: 10573008
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  • 4. A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.
    Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR.
    Nat Genet; 1993 Aug 31; 4(4):357-60. PubMed ID: 8401582
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  • 6. MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
    Todorova A, Todorov T, Georgieva B, Lukova M, Guergueltcheva V, Kremensky I, Mitev V.
    Neuromuscul Disord; 2008 Aug 31; 18(8):667-70. PubMed ID: 18653336
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  • 8. Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries.
    Nouri N, Fazel-Najafabadi E, Behnam M, Nouri N, Aryani O, Ghasemi M, Nasiri J, Sedghi M.
    Gene; 2014 Feb 10; 535(2):250-4. PubMed ID: 24274981
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  • 9. Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform.
    Lim BC, Lee S, Shin JY, Kim JI, Hwang H, Kim KJ, Hwang YS, Seo JS, Chae JH.
    J Med Genet; 2011 Nov 10; 48(11):731-6. PubMed ID: 21969337
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  • 10. Exon 44 nonsense mutation in two-Duchenne muscular dystrophy brothers detected by heteroduplex analysis.
    Prior TW, Papp AC, Snyder PJ, Burghes AH, Sedra MS, Western LM, Bartolo C, Mendell JR.
    Hum Mutat; 1993 Nov 10; 2(3):192-5. PubMed ID: 8364587
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  • 11. [Detection of rare mutations in the dystrophin gene].
    Zimowski JG, Holding M, Fidziańska E, Fidziańska A, Ryniewicz B, Dobosz I, Hausmanowa-Petrusewicz I, Kostera-Pruszczyk A, Zdzienicka E, Kubalska J, Andrzejczyk A, Zaremba J.
    Med Wieku Rozwoj; 2009 Nov 10; 13(2):140-5. PubMed ID: 19837995
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  • 12. Novel point mutations in the dystrophin gene.
    Sitnik R, Campiotto S, Vainzof M, Pavanello RC, Takata RI, Zatz M, Passos-Bueno MR.
    Hum Mutat; 1997 Nov 10; 10(3):217-22. PubMed ID: 9298822
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  • 13. Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
    Ligon AH, Kashork CD, Richards CS, Shaffer LG.
    Eur J Hum Genet; 2000 Apr 10; 8(4):293-8. PubMed ID: 10854113
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  • 14. Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) technique.
    Tuffery S, Moine P, Demaille J, Claustres M.
    Hum Mutat; 1993 Apr 10; 2(5):368-74. PubMed ID: 8257990
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  • 15. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
    del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM.
    Hum Mutat; 2008 Sep 10; 29(9):1100-7. PubMed ID: 18752307
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  • 19. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
    Deburgrave N, Daoud F, Llense S, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F.
    Hum Mutat; 2007 Feb 10; 28(2):183-95. PubMed ID: 17041906
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  • 20. Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.
    Dubourg C, Odent S, Fergelot P, Le Gall JY, David V, Blayau M.
    Hum Mutat; 1999 Feb 10; 13(2):173. PubMed ID: 10094565
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