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Truncating mutation in intracellular phospholipase A(1) gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)
BACKGROUND: Hereditary spastic paraplegias (HSP), a group of genetically heterogeneous neurological disorders with more than 56 documented loci (SPG1-56), are described either as uncomplicated (or pure), or complicated where in addition to spasticity and weakness of lower extremeties, additional neu...
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| Опубликовано в: : | BMC Res Notes |
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| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BioMed Central
2015
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4482296/ https://ncbi.nlm.nih.gov/pubmed/26113134 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13104-015-1227-4 |
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