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An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration

LMNA gene encodes lamin A/C protein which participates in the construction of nuclear lamina, the mutations of LMNA result in a wide variety of diseases known as laminopathies. LMNA-related dilated cardiomyopathy(LMNA-DCM) is one of the more common laminopathy which characterized by progressive hear...

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Detalles Bibliográficos
Autores principales: Chang, Lei, Huang, Rong, Chen, Jianzhou, Li, Guannan, Shi, Guangfei, Xu, Biao, Wang, Lian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10544607/
https://www.ncbi.nlm.nih.gov/pubmed/37784143
http://dx.doi.org/10.1186/s12920-023-01661-1