Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA
Autor: | Wicklow, B. A., Ivanovich, J. L., Plews, M. M., Salo, T. J., Noetzel, M. J., Lueder, G. T., Cartegni, L., Kaback, M. M., Sandhoff, K., Steiner, R. D., Barbara Triggs-Raine |
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Zdroj: | Scopus-Elsevier |
Databáze: | OpenAIRE |
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