Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy

As an essential component of the sarcomere, actin thin filament stems from the Z-disk extend toward the middle of the sarcomere and overlaps with myosin thick filaments. Elongation of the cardiac thin filament is essential for normal sarcomere maturation and heart function. This process is regulated...

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Detalles Bibliográficos
Autores principales: Sono, Reiri, Larrinaga, Tania M., Huang, Alden, Makhlouf, Frank, Kang, Xuedong, Su, Jonathan, Lau, Ryan, Arboleda, Valerie A., Biniwale, Reshma, Fishbein, Gregory A., Khanlou, Negar, Si, Ming-Sing, Satou, Gary M., Halnon, Nancy, Van Arsdell, Glen S., Gregorio, Carol C., Nelson, Stanly, Touma, Marlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10252268/
https://www.ncbi.nlm.nih.gov/pubmed/37296576
http://dx.doi.org/10.3390/cells12111455

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