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Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and ca...
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| Autors principals: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2011
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3146726/ https://ncbi.nlm.nih.gov/pubmed/21549341 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.004 |
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