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A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by progressive neurodegeneration and accumulation of autofluorescent storage granules. A 9 month old Miniature Dachshund presented with NCL-like signs that included disorientation, ataxia, weakness, visual impairm...
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| 主要な著者: | , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2010
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2930207/ https://ncbi.nlm.nih.gov/pubmed/20494602 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2010.04.009 |
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