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Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 18 |
| Mutation | c.597G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Also known as | NCL10 |
Informations générales
Neuronal Ceroid Lipofuscinosis (NCL) is the name for a wide array of degenerative neurological conditions which cause progressive nerve damage, resulting in a loss of mobility and vision, and ultimately death. The variant analysed in this test, Neuronal Ceroid Lipofuscinosis 10 (NCL10), is caused by a recessive mutation to the gene CTSD. It is found in the Amerian Bulldog.
Caractéristiques cliniques
American Bulldogs develop clinical signs between 1 and 3 years of age and include mental dullness, ataxia, loss of vision, weakness, abnormal gait, seizures, tremors and aggressive behavior.
Additional Information
Références
Pubmed ID: 16386934
Year published: 2006
Omia ID: 1505
Omia variant ID: 66