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A mutation in the ovine cathepsin D gene causes a congenital lysosomal storage disease with profound neurodegeneration
The neuronal ceroid lipofuscinoses (NCLs) constitute a group of neurodegenerative storage diseases characterized by progressive psychomotor retardation, blindness and premature death. Pathologically, there is accumulation of autofluorescent material in lysosome-derived organelles in a variety of cel...
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| Главные авторы: | , , , , , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Oxford University Press
2000
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC203370/ https://ncbi.nlm.nih.gov/pubmed/10856224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/emboj/19.12.2786 |
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