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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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Bibliografische gegevens
Hoofdauteurs: Kyöstilä, Kaisa, Cizinauskas, Sigitas, Seppälä, Eija H., Suhonen, Esko, Jeserevics, Janis, Sukura, Antti, Syrjä, Pernilla, Lohi, Hannes
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2012
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Online toegang: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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