Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
| Autor: | 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. |
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| Zdroj: | In Molecular Genetics and Metabolism Reports March 2015 2:34-37 |
| Databáze: | ScienceDirect |
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