Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy

Patient-derived induced pluripotent stem cells to study non-canonical splicing variants associated with Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiomyopathy and a leading cause of sudden death. Genetic testing and familial cascade screening play a pivotal role in the clinical management of HCM patients. However, conventional genetic tests primarily focus on the detection of...

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Main Authors: Joanna Jager, Marta Ribeiro, Marta Furtado, Teresa Carvalho, Petros Syrris, Luis R. Lopes, Perry M. Elliott, Joaquim M.S. Cabral, Maria Carmo-Fonseca, Simão Teixeira da Rocha, Sandra Martins
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Stem Cell Research
Subjects:
iPSC
Non-canonical splicing variants
MYBPC3
Hypertrophic cardiomyopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506124002800
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