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Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis
The neuronal ceroid lipofuscinoses (NCLs) are at least 13 distinct progressive neurodegenerative disorders unified by the accumulation of lysosomal auto-fluorescent material called lipofuscin. The only form that occurs via autosomal-dominant inheritance exhibits adult onset and is sometimes referred...
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| Publicado no: | Clin Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7899141/ https://ncbi.nlm.nih.gov/pubmed/32783189 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13829 |
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