Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency
| Autor: | Bessa, C., Teixeira, C.A.F., Mangas, M., Dias, A., Sá Miranda, M.C., Guimarães, A., Ferreira, J.C., Canas, N., Cabral, P., Ribeiro, M.G. |
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| Zdroj: | In Molecular Genetics and Metabolism 2006 89(3):245-253 |
| Databáze: | ScienceDirect |
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