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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...
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. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7012447/ https://www.ncbi.nlm.nih.gov/pubmed/31999692 http://dx.doi.org/10.1371/journal.pgen.1008527 |
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