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良性假肥大型肌营养不良一家系13例 被引量:1

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出处 《中华医学遗传学杂志》 CAS CSCD 2003年第2期130-130,共1页 Chinese Journal of Medical Genetics
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  • 1冯慧宇,张成,李中,姚晓黎,曾缨.女性假肥大型肌营养不良症家系的临床病理和基因分析[J].中华医学遗传学杂志,2005,22(1):65-67. 被引量:2
  • 2申本昌,张成,陈松林,孙筱放,李少英,姚晓黎,王淑辉,卢锡林.非缺失/重复型Duchenne肌营养不良症患者的致病点突变分析[J].中华医学遗传学杂志,2006,23(4):392-396. 被引量:16
  • 3Dick E, Kalra S, Anderson D, George V,et al. Exon skipping andgene transfer restore dystrophin expression in human inducedpluripotent stem cells-cardiomyocytes harboring DMD mutations[J].Stem Cells Dev, 2013,22(20): 2714-2724.
  • 4Marcio L, Fernanda JPM, Marco ACE, et al. Classic manifestationsof Duchenne dystrophy in a young female patient: A case report[J].European Journal of Paediatric Neurology, 2013,17(2): 212-218.
  • 5Du Z, Li S, Li Q, et al. Duchenne muscular dystrophy in a femalepatient with a karyotype of 46,X,i(X)(q10)[J]. Tohoku J Exp Med,2010,222(2): 149-153.
  • 6Nudel U, Zuk D,Einat P, et al. Duchenne muscular dystrophy geneproduct is not identical in muscle and brainfJ]. Nature, 1989,337(6602): 76-78.
  • 7Miller RG, Hoffinan EP. Molecular diagnosis and modem concernmanagement of duchenne muscular dystrophy[J]. Neurol CJin, 1994,12(4): 699-725.
  • 8Schouten JP, Mcelgunn CJ, Waaijer R, et al. Relative quantificationof 40 nucleic acid sequences by multiplex ligation-dq>endent probeamplification [J]. Nucleic Acids Res,2002,30(12): e57.
  • 9Muntoni F, Wells D. Genetic treatments in muscular dystrophies[J].Current Opinion in Neurology, 2007,20(5): 590-594.
  • 10Dick E, Kalra S,Anderson D, et al. Exon skipping and gene transferrestore dystrophin expression in human induced pluripotent stemcells-cardiomyocytes harboring DMD mutations[J]. Stem Cells Dev,2013,22(10): 2714-2724.

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