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Neuronal ceroid lipofuscinosis 1
Battenova choroba
Code: NCL1
Neuronal ceroid lipofuscinosis 1 (NCL1) is a rare genetic disorder observed in one individual of Cane Corso breed.
The first clinical signs appeared at approximately 8-10 months of age and included difficulty seeing in low light. Within two months, symptoms progressed to blindness, incoordination in walking and lethargy.
Gene and tested mutations/variants
PPT1; c.124+1G>A
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Rough and Smooth Collie PACKAGE
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A complete package of genetic tests for the prevention of genetic health in Rough and Smooth Collies.
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