【摘 要】
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Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA.The aim of this study was to analyze the copy numbers and
【机 构】
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Department of Medical Genetics,School of Basic Medical Sciences,Southern Medical University,Guangzho
【出 处】
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2014全球华人遗传学大会暨全国第十三次医学遗传学学术会议
论文部分内容阅读
Background: Spinal muscular atrophy (SMA) is caused by SMN1 dysfunction, and the copy number of SMN2 and NAIP can modify the phenotype of SMA.The aim of this study was to analyze the copy numbers and gene structures of SMA-related genes in Chinese SMA patients and unrelated healthy controls.Methods: Forty-two Chinese SMA patients and two hundred and twelve unrelated healthy Chinese individuals were enrolled in our study.The copy numbers and gene structures of SMA-related genes were measured by MLPA assay.
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