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Mutation: RPE65 gene
as well as many other tissues
It causes a cytoplasmic accumulation of granular material within cerebellar cells
Der klinische Verlauf der HN bei untersuchten Samojeden zeigte
Cleft palate is a genetically inherited craniofacial birth defect affecting Nova Scotia Duck Tolling Retrievers
Spongiöse Degeneration mit zerebellarer Ataxie 1 (SDCA1) globo-product-options Mutation: RPE65 geneSpongy degeneration with cerebellar ataxia (SDCA) is genetically heterogeneous neurodegenerative disorder characterized by progressive degeneration of cerebellum and extracerebellar structures. First clinical signs appear in first few weeks of age and are mainly associated with cerebellardysfunction. Affected puppies showgeneralized ataxic gait, balance loss and seizures. Affected puppies may die during a seizure. Clinical signs show very rapid
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