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Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Els Schollen, Liesbeth Keldermans, François Foulquier, Paz Briones, Amparo Chabas, Félix Sánchez-Valverde, Maciej Adamowicz, Ewa Pronicka, Ron Wevers, Gert Matthijs
Mol Genet Metab 2007; 90(4):408-413
ICID: 740642
IC™ Value: 7.42
Author's profile available for:
  • Ewa Pronicka - click here