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Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.
Cavanagh JA, Tammen I, Windsor PA, Bateman JF, Savarirayan R, Nicholas FW, Raadsma HW. Cavanagh JA, et al. Among authors: raadsma hw. Mamm Genome. 2007 Nov;18(11):808-14. doi: 10.1007/s00335-007-9066-9. Epub 2007 Oct 22. Mamm Genome. 2007. PMID: 17952705
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: raadsma hw. 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.
A primary assembly of a bovine haplotype block map based on a 15,036-single-nucleotide polymorphism panel genotyped in holstein-friesian cattle.
Khatkar MS, Zenger KR, Hobbs M, Hawken RJ, Cavanagh JA, Barris W, McClintock AE, McClintock S, Thomson PC, Tier B, Nicholas FW, Raadsma HW. Khatkar MS, et al. Among authors: raadsma hw. Genetics. 2007 Jun;176(2):763-72. doi: 10.1534/genetics.106.069369. Epub 2007 Apr 15. Genetics. 2007. PMID: 17435229 Free PMC article.
92 results