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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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| Wydane w: | Brain Behav |
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| Główni autorzy: | , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
BlackWell Publishing Ltd
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4356846/ https://ncbi.nlm.nih.gov/pubmed/25798335 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.321 |
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