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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BlackWell Publishing Ltd
2015
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Materias: | |
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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