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Novel degenerative and developmental defects in a zebrafish model of mucolipidosis type IV
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study, we...
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| Publicado en: | Hum Mol Genet |
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| Autores principales: | , , , , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Oxford University Press
2017
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5886147/ https://ncbi.nlm.nih.gov/pubmed/28449103 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx158 |
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