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Numata, S; Koda, Y; Ihara, K; Sawada, T; Okano, Y; Matsuura, T; Endo, F; Yoo, HW; Arranz, JA; Rubio, V; Wermuth, B; Mew, NA; Tuchman, M; Pinner, JR; Kirk, EP; Yoshino, M (2010). Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. Journal of human genetics, 55(1), pp. 18-22. Avenel, N.J.: Nature Publishing Group 10.1038/jhg.2009.113