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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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Bibliografski detalji
Glavni autori: Kyöstilä, Kaisa, Cizinauskas, Sigitas, Seppälä, Eija H., Suhonen, Esko, Jeserevics, Janis, Sukura, Antti, Syrjä, Pernilla, Lohi, Hannes
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2012
Teme:
Online pristup: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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