A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
| Autor: | Corbett, Mark A., Schwake, Michael, Bahlo, Melanie, Dibbens, Leanne M., Lin, Meng, Gandolfo, Luke C., Vears, Danya F., O'Sullivan, John D., Robertson, Thomas, Bayly, Marta A., Gardner, Alison E., Vlaar, Annemarie M., Korenke, G. Christoph, Bloem, Bastiaan R., de Coo, Irenaeus F., Verhagen, Judith M.A., Lehesjoki, Anna-Elina, Gecz, Jozef, Berkovic, Samuel F. |
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| Zdroj: | In The American Journal of Human Genetics 13 May 2011 88(5):657-663 |
| Databáze: | ScienceDirect |
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