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Plante, M., Claveau, S., Lepage, P., Lavoie, E-M., Brunet, S., Roquis, D., Morin, C., Vézina, H., & Laprise, C. (2008). Mucolipidosis II: A single causal mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTAB) in a French Canadian founder population. Clinical Genetics, 73, 236-244. doi:10.1111/j.1399-0004.2007.00954.x

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