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Duplication in the Microtubule-Actin Cross-linking Factor 1 gene causes a novel neuromuscular condition

Spectrins and plakins are important communicators linking cytoskeletal components to each other and to cellular junctions. Microtubule-actin cross-linking factor 1 (MACF1) belongs to the spectraplakin family and is involved in control of microtubule dynamics. Complete knock out of MACF1 in mice is a...

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Detalles Bibliográficos
Autores principales: Jørgensen, Louise H., Mosbech, Mai-Britt, Færgeman, Nils J., Graakjaer, Jesper, Jacobsen, Søren V., Schrøder, Henrik D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4046130/
https://www.ncbi.nlm.nih.gov/pubmed/24899269
http://dx.doi.org/10.1038/srep05180