Article
A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.
Biochimica et biophysica acta - 1 Oct 2006
Tammen Imke, Houweling Peter J, Frugier Tony, Mitchell Nadia L, Kay Graham W, Cavanagh Julie A L, Cook Roger W, Raadsma Herman W, Palmer David N
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively inherited neurodegenerative diseases of humans and animals characterised by common clinical signs and pathology. These include blindness, ataxia, dementia, behavioural changes, seizures, brain and retinal atrophy and accumulation of fluorescent lysosome derived organelles in most cells. A number of different variants have...
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