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Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy

As a member of spectraplakin family of cytoskeletal crosslinking proteins, microtubule-actin crosslinking factor 1 (MACF1) controls cytoskeleton network dynamics. Knockout of Macf1 in mice resulted in the developmental retardation and embryonic lethality. Spectraplakinopathy type I, a novel neuromus...

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Detalles Bibliográficos
Autores principales:	Kang, Lulu, Liu, Yi, Jin, Ying, Li, Mengqiu, Song, Jinqing, Zhang, Yi, Zhang, Yao, Yang, Yanling
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974614/ https://www.ncbi.nlm.nih.gov/pubmed/32010038 http://dx.doi.org/10.3389/fneur.2019.01335

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