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Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characterized by intralysosomal accumulation of ceroid in tissues. The ceroid accumulation primarily affects the brain, leading to neuronal loss and progressive neurodegeneration. Although...
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| Publicat a: | Eur J Hum Genet |
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| Autors principals: | , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer International Publishing
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7253421/ https://ncbi.nlm.nih.gov/pubmed/31919451 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0567-2 |
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