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Genomic analysis of Brazilian patients with Fabry disease by F.S. Pereira, L.B. Jardim, C.B. Netto, M.G. Burin, C. Cecchin, R. Giugliani, U.S. Matte
Published 2007-12-01
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Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype by F. Sperb-Ludwig, T. Alegra, R.V. Velho, N. Ludwig, C.A. Kim, F. Kok, J.P. Kitajima, E. van Meel, S. Kornfeld, M.G. Burin, I.V.D. Schwartz
Published 2015-03-01
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