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强直性肌营养不良分子生物学特征和分子诊断方法研究进展 被引量:2

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摘要 强直性肌营养不良(DM)分为DM1和DM2两型,分别由位于强直性肌营养不良蛋白激酶(DMPK)基因的3′非翻译区的不稳定的CTG三核苷酸重复片段异常扩增和位于锌指蛋白9(ZNF9)基因的第一个内含子中CCTG四核苷酸重复片段异常扩增引起。DM临床表现多样,诊断有相当难度,分子诊断对DM的确诊有重要作用。现对DM的分子生物学特征和分子诊断方法进行综述。
出处 《中国神经免疫学和神经病学杂志》 CAS 北大核心 2012年第2期134-137,共4页 Chinese Journal of Neuroimmunology and Neurology
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参考文献18

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共引文献6

同被引文献22

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