Authors: Kolosha, V Anoia, E de Cespedes, C Gitzelmann, R Shih, L Casco, T Saborio, M Trejos, R Buist, N Tedesco, T Skach, W Mitelmann, O Ledee, D Huang, K Stambolian, D

Citation: V. Kolosha et al., Novel mutations in 13 probands with galactokinase deficiency, HUM MUTAT, 15(5), 2000, pp. 447-453