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A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

Inherited ataxias are characterized by degeneration of the cerebellar structures, which results in progressive motor incoordination. Hereditary ataxias occur in many species, including humans and dogs. Several mutations have been found in humans, but the genetic background has remained elusive in do...

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Detalhes bibliográficos
Main Authors: Kyöstilä, Kaisa, Cizinauskas, Sigitas, Seppälä, Eija H., Suhonen, Esko, Jeserevics, Janis, Sukura, Antti, Syrjä, Pernilla, Lohi, Hannes
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3375262/
https://ncbi.nlm.nih.gov/pubmed/22719266
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002759
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