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Defects in the retina of Niemann-pick type C 1 mutant mice
BACKGROUND: Niemann-Pick type C1 (NPC1) disease is an inherited lysosomal storage disease caused by mutation of the Npc1 gene, resulting in a progressive accumulation of unesterified cholesterol and glycolipids in lysosomes of multiple tissues and leading to neurodegeneration and other disease. In N...
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| 出版年: | BMC Neurosci |
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| 主要な著者: | , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4267119/ https://ncbi.nlm.nih.gov/pubmed/25472750 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12868-014-0126-2 |
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