Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

A form of hereditary cerebellar ataxia has recently been described in the Norwegian Buhund dog breed. This study aimed to identify the genetic cause of the disease. Whole-genome sequencing of two Norwegian Buhund siblings diagnosed with progressive cerebellar ataxia was carried out, and sequences co...

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Publicado en:PLoS Genet
Autores principales: Jenkins, Christopher A., Kalmar, Lajos, Matiasek, Kaspar, Mari, Lorenzo, Kyöstilä, Kaisa, Lohi, Hannes, Schofield, Ellen C., Mellersh, Cathryn S., De Risio, Luisa, Ricketts, Sally L.
Formato: Artigo
Lenguaje:Inglês
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012447/
https://ncbi.nlm.nih.gov/pubmed/31999692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008527
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