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Frugier, T, Mitchell, NL, Tammen, I, Houweling, PJ, Arthur, DG, Kay, GW, van Diggelen, OP, Jolly, RD, Palmer, DN.
A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571+1G>A) leading to excision of exon 3..
Neurobiol Dis
29(2)
:
306 -315
2008
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Tammen, I, Houweling, PJ, Frugier, T, Mitchell, NL, Kay, GW, Cavanagh, JAL, Cook, RW, Raadsma, HW, Palmer, DN.
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..
Biochim Biophys Acta
1762(10)
:
898 -905
2006
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Houweling, PJ, Cavanagh, JAL, Palmer, DN, Frugier, T, Mitchell, NL, Windsor, PA, Raadsma, HW, Tammen, I.
Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene..
Biochim Biophys Acta
1762(10)
:
890 -897
2006
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Houweling, PJ, Cavanagh, JAL, Tammen, I.
Radiation hybrid mapping of three candidate genes for bovine Neuronal Ceroid Lipofuscinosis: CLN3, CLN5 and CLN6..
Cytogenet Genome Res
115(1)
:
5 -6
2006
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