Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients
| Autor: | Schollen, Els, Keldermans, Liesbeth, Foulquier, François, Briones, Paz, Chabas, Amparo, Sánchez-Valverde, Félix, Adamowicz, Maciej, Pronicka, Ewa, Wevers, Ron, Matthijs, Gert * |
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| Zdroj: | In Molecular Genetics and Metabolism April 2007 90(4):408-413 |
| Databáze: | ScienceDirect |
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