Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells

Dilated cardiomyopathy (DCM) is a leading cause of heart failure. In families with autosomal-dominant DCM, heterozygous missense mutations were identified in RNA-binding motif protein 20 (RBM20), a spliceosome protein induced during early cardiogenesis. Dermal fibroblasts from two unrelated patients...

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Publié dans:Hum Mol Genet
Auteurs principaux: Wyles, Saranya P., Li, Xing, Hrstka, Sybil C., Reyes, Santiago, Oommen, Saji, Beraldi, Rosanna, Edwards, Jessica, Terzic, Andre, Olson, Timothy M., Nelson, Timothy J.
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2016
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Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4706113/
https://ncbi.nlm.nih.gov/pubmed/26604136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv468
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