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The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects

The embryonic myosin isoform is expressed during fetal development and rapidly down-regulated after birth. Freeman-Sheldon syndrome (FSS) is a disease associated with missense mutations in the motor domain of this myosin. It is the most severe form of distal arthrogryposis, leading to overcontractio...

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Detalles Bibliográficos
Autores principales:	Walklate, Jonathan, Vera, Carlos, Bloemink, Marieke J., Geeves, Michael A., Leinwand, Leslie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	American Society for Biochemistry and Molecular Biology 2016
Materias:	Molecular Bases of Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4858979/ https://www.ncbi.nlm.nih.gov/pubmed/26945064 http://dx.doi.org/10.1074/jbc.M115.707489

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