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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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Detalles Bibliográficos
Autores principales: Kawahara, Genri, Hayashi, Yukiko K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085058/
https://www.ncbi.nlm.nih.gov/pubmed/27792754
http://dx.doi.org/10.1371/journal.pone.0165563