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PMCA4 (ATP2B4) Mutation in Familial Spastic Paraplegia
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. In this study, we identified a novel missense mutation (c.803G>A, p...
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| Главные авторы: | , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Public Library of Science
2014
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4132067/ https://ncbi.nlm.nih.gov/pubmed/25119969 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0104790 |
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