Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype

por Sperb-Ludwig, F., Alegra, T., Velho, R.V., Ludwig, N., Kim, C.A., Kok, F., Kitajima, J.P., van Meel, E., Kornfeld, S., Burin, M.G., Schwartz, I.V.D.
Publicado 2014