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Staropoli J, Karaa A, Lim E, Kirby A, Elbalalesy N, Romansky S, Leydiker K, Coppel S, Barone R, Xin W, MacDonald M, Abdenur J, Daly M, Sims K, Cotman S. A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System. The American Journal of Human Genetics. 2012 Jul;91(1):202–8. doi: 10.1016/j.ajhg.2012.05.023. |