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PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion

BACKGROUND: Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. Recently, we described a novel missense mutation (c.803G&g...

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Detalles Bibliográficos
Autores principales:	Ho, Philip Wing-Lok, Pang, Shirley Yin-Yu, Li, Miaoxin, Tse, Zero Ho-Man, Kung, Michelle Hiu-Wai, Sham, Pak-Chung, Ho, Shu-Leong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BlackWell Publishing Ltd 2015
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4356846/ https://www.ncbi.nlm.nih.gov/pubmed/25798335 http://dx.doi.org/10.1002/brb3.321

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