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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.
Tammen I, Houweling PJ, Frugier T, Mitchell NL, Kay GW, Cavanagh JA, Cook RW, Raadsma HW, Palmer DN. Tammen I, et al. Among authors: kay gw. Biochim Biophys Acta. 2006 Oct;1762(10):898-905. doi: 10.1016/j.bbadis.2006.09.004. Epub 2006 Sep 12. Biochim Biophys Acta. 2006. PMID: 17046213 Free article.
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