<i>LMNA</i> Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.

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作者： Koichi,Kato ^[1] ; Seiko,Ohno ^[1] ; Keiko,Sonoda ^[2] ; Megumi,Fukuyama ^[3] ; Takeru,Makiyama ^[3] ; Tomoya,Ozawa ^[1] ; Minoru,Horie ^[4]

作者单位： Department of Cardiovascular Medicine (K.K., S.O., M.F., T.O., M.H.), Shiga University of Medical Science, Otsu. ^[1] Center for Epidemiologic Research in Asia (S.O., M.H.), Shiga University of Medical Science, Otsu. ^[2] Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Suita (S.O., K.S.). ^[3] Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Japan (T.M.). ^[4]

关键词 RNA splicing cardiomyopathies gene expression lamins nonsense-mediated mRNA decay

主题词老年人(Aged);心肌病, 扩张型(Cardiomyopathy, Dilated);外显子(Exons);女(雌)性(Female);人类(Humans);核纤层蛋白A型(Lamin Type A);中年人(Middle Aged);突变, 误义(Mutation, Missense);系谱(Pedigree);RNA剪接(RNA Splicing);疾病严重程度指数(Severity of Illness Index)

DOI 10.1161/CIRCGEN.119.002853

PMID 32818388

发布时间 2021-10-27

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Circulation. Genomic and precision medicine

2020年13卷5期

435-443页

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<i>LMNA</i> Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.

Circulation. Genomic and precision medicine

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Circulation. Genomic and precision medicine

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<i>LMNA</i> Missense Mutation Causes Nonsense-Mediated mRNA Decay and Severe Dilated Cardiomyopathy.

Circulation. Genomic and precision medicine

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Circulation. Genomic and precision medicine

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