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Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed
BACKGROUND: Cerebellar cortical degeneration (CCD) is an increasingly recognised neurodegenerative disease process affecting many dog breeds. Typical presentation consists of a progressive cerebellar ataxia, with a variable age at onset and rate of progression between different breeds. Cerebellar hi...
Autores principales: | Fenn, Joe, Boursnell, Mike, Hitti, Rebekkah J., Jenkins, Christopher A., Terry, Rebecca L., Priestnall, Simon L., Kenny, Patrick J., Mellersh, Cathryn S., Forman, Oliver P. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002145/ https://www.ncbi.nlm.nih.gov/pubmed/27566131 http://dx.doi.org/10.1186/s12863-016-0433-y |
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