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ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders characterized by progressive neurodegeneration and declines in neurological functions. Pathogenic sequence variants in at least 13 genes underlie different forms of NCL, almost all of which are recessively inherited. To date 1...
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| Vydáno v: | Mol Genet Metab |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2019
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6548654/ https://ncbi.nlm.nih.gov/pubmed/30956123 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.11.015 |
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