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Journal Abstract Search

176 related items for PubMed ID: 7823533

  • 1. Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.
    Kitoh Y, Matsuo M, Nishio H, Nakamura H.
    Kobe J Med Sci; 1994 Apr; 40(2):39-48. PubMed ID: 7823533
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  • 4. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
    Li H, Ding J, Wang W, Chen Y, Lu W, Shao H, Wu BL.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
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  • 6. Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype.
    Nevo Y, Muntoni F, Sewry C, Legum C, Kutai M, Harel S, Dubowitz V.
    Isr Med Assoc J; 2003 Feb; 5(2):94-7. PubMed ID: 12674656
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  • 7. Deletion mutations in the dystrophin gene of Saudi patients with Duchenne and Becker muscular dystrophy.
    Al-Jumah M, Majumdar R, Al-Rajeh S, Chaves-Carballo E, Salih MM, Awada A, Al-Shahwan S, Al-Uthaim S.
    Saudi Med J; 2002 Dec; 23(12):1478-82. PubMed ID: 12518196
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  • 8. Becker muscular dystrophy with r(X) carrying an out-of-frame DMD deletion.
    Lee KA, Han SH, Choi JR, Chung JS, Choi YC.
    Pediatr Neurol; 2008 Aug; 39(2):129-32. PubMed ID: 18639760
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  • 9. Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: use in carrier diagnosis.
    Kumari D, Mital A, Gupta M, Goyle S.
    Neurol India; 2003 Jun; 51(2):223-6. PubMed ID: 14571009
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  • 13. Detection of DMD gene deletions in Thai children patients.
    Kamolsilp M, Paditaporn R, Noonai A, Wasant P.
    Southeast Asian J Trop Med Public Health; 1995 Jun; 26 Suppl 1():172-4. PubMed ID: 8629100
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  • 16. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies.
    Chelly J, Gilgenkrantz H, Lambert M, Hamard G, Chafey P, Récan D, Katz P, de la Chapelle A, Koenig M, Ginjaar IB.
    Cell; 1990 Dec 21; 63(6):1239-48. PubMed ID: 2261642
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  • 17. 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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  • 18. Dystrophin expression in Duchenne patients with "in-frame" gene deletions.
    Nicholson LV, Bushby KM, Johnson MA, Gardner-Medwin D, Ginjaar IB.
    Neuropediatrics; 1993 Apr 15; 24(2):93-7. PubMed ID: 8327067
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  • 19. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.
    Winnard AV, Klein CJ, Coovert DD, Prior T, Papp A, Snyder P, Bulman DE, Ray PN, McAndrew P, King W.
    Hum Mol Genet; 1993 Jun 15; 2(6):737-44. PubMed ID: 8353493
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  • 20. Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping.
    Madden HR, Fletcher S, Davis MR, Wilton SD.
    Hum Mutat; 2009 Jan 15; 30(1):22-8. PubMed ID: 18570328
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