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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...

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Detalles Bibliográficos
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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
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