相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Spinal Muscular Atrophy: The Past, Present, and Future of Diagnosis and Treatment
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PLOS ONE (2012)
A Leaky Splicing Mutation Affecting SMN1 Exon 7 Inclusion Explains an Unexpected Mild Case of Spinal Muscular Atrophy
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EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
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A genetic and phenotypic analysis iin Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene
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