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Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia

Dystonia is a neurological movement disorder that forces the body into twisting, repetitive movements or sometimes painful abnormal postures. With the advent of next-generation sequencing technologies, the homozygous mutations T71N and A190T in the neuronal calcium sensor (NCS) hippocalcin were iden...

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Detalles Bibliográficos
Autores principales:	Helassa, Nordine, Antonyuk, Svetlana V., Lian, Lu-Yun, Haynes, Lee P., Burgoyne, Robert D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2017
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886089/ https://www.ncbi.nlm.nih.gov/pubmed/28398555 http://dx.doi.org/10.1093/hmg/ddx133

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