Mutation update for the ACTN2 gene

ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal titins, and thus contributes to sarcomere stab...

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Detalles Bibliográficos
Autores principales: Ranta‐aho, Johanna, Olive, Montse, Vandroux, Marie, Roticiani, Giorgia, Dominguez, Cristina, Johari, Mridul, Torella, Annalaura, Böhm, Johann, Turon, Janina, Nigro, Vincenzo, Hackman, Peter, Laporte, Jocelyn, Udd, Bjarne, Savarese, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Mutation Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087778/
https://www.ncbi.nlm.nih.gov/pubmed/36116040
http://dx.doi.org/10.1002/humu.24470

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10087778/
https://www.ncbi.nlm.nih.gov/pubmed/36116040
http://dx.doi.org/10.1002/humu.24470

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