Učitavanje...
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis
BACKGROUND: The neuronal ceroid lipofuscinoses are heritable lysosomal storage diseases characterized by progressive neurological impairment and the accumulation of autofluorescent storage granules in neurons and other cell types. Various forms of human neuronal ceroid lipofuscinosis have been attri...
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| Izdano u: | BMC Vet Res |
|---|---|
| Glavni autori: | , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4298050/ https://ncbi.nlm.nih.gov/pubmed/25551667 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12917-014-0181-z |
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