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Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis
Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as the cause of different types of NCL, with ages at o...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Oxford University Press
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3363329/ https://www.ncbi.nlm.nih.gov/pubmed/22388936 http://dx.doi.org/10.1093/hmg/dds089 |