Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
作者:
主题词
细胞, 培养的(Cells, Cultured);外显子(Exons);糖原贮积病Ⅱ型(Glycogen Storage Disease Type II);核不均一核糖核蛋白类(Heterogeneous-Nuclear Ribonucleoproteins);人类(Humans);突变(Mutation);核蛋白质类(Nuclear Proteins);RNA剪接(RNA Splicing);RNA, 信使(RNA, Messenger);RNA结合蛋白质类(RNA-Binding Proteins);核糖核蛋白类(Ribonucleoproteins);α葡糖苷酶类(alpha-Glucosidases)
DOI
10.1093/nar/gkt987
PMID
24150945
发布时间
2021-10-21
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Nucleic acids research
1291-302页
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