I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy

ABSTRACT: RBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the RS domain have been reported in many DCM patients, but the pathogenicity of variants within the RNA-recognition motif remains unknown. Two human patients with the I536T-RBM20 variant without an apparent...

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Detalles Bibliográficos
Autores principales: Yamamoto, Takuma, Sano, Rie, Miura, Aya, Imasaka, Mai, Naito, Yoshiro, Nishiguchi, Minori, Ihara, Kensuke, Otani, Naruhito, Kominato, Yoshihiko, Ohmuraya, Masaki, Kuroyanagi, Hidehito, Nishio, Hajime
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9691496/
https://www.ncbi.nlm.nih.gov/pubmed/36198914
http://dx.doi.org/10.1007/s00109-022-02262-8

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