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Characterization of Zebrafish Models of Marinesco-Sjögren Syndrome
SIL1 is a nucleotide exchange factor for the endoplasmic reticulum chaperone, BiP. Mutations in the SIL1 gene cause Marinesco-Sjögren syndrome (MSS), an autosomal recessive disease characterized by cerebellar ataxia, mental retardation, congenital cataracts, and myopathy. To create novel zebrafish m...
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| Yayımlandı: | PLoS One |
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| Asıl Yazarlar: | , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Public Library of Science
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5085058/ https://ncbi.nlm.nih.gov/pubmed/27792754 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0165563 |
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