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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.
10 Arbeidsdager
Spesifikasjoner
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specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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Chromosome | |
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Generell informasjon
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.
Kliniske egenskaper
American Bulldogs utvikler kliniske tegn mellom 1 og 3 år og inkluderer mental sløvhet, ataksi, synstap, svakhet, unormal gang, anfall, skjelvinger og aggressiv oppførsel.
Tilleggsinformasjon
Referanser
Pubmed ID: 16386934
Omia ID: 1505