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Spinocerebellar ataxia in the Italian Spinone dog is associated with an intronic GAA repeat expansion in ITPR1

Spinocerebellar ataxia in the Italian Spinone dog breed is characterised by a progressive gait abnormality that manifests from approximately 4 months of age. The disorder shows an autosomal recessive mode of inheritance, and affected individuals are usually euthanized by one year of age on welfare g...

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Bibliografische gegevens
Gepubliceerd in:Mamm Genome
Hoofdauteurs: Forman, Oliver P., De Risio, Luisa, Matiasek, Kaspar, Platt, Simon, Mellersh, Cathryn
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer US 2014
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4305091/
https://ncbi.nlm.nih.gov/pubmed/25354648
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-014-9547-6
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