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1. A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report.

Author

Delgado MA, Sarrión P, Azar N, Zecchini L, Robledo HH, Segura F, Balcells S, Grinberg D, Dodelson de Kremer R, Asteggiano CG, Delgado, María Andrea, Sarrión, Patricia, Azar, Nydia, Zecchini, Lorena, Robledo, Hector Hugo, Segura, Florencio, Balcells, Susana, Grinberg, Daniel, Dodelson de Kremer, Raquel, and Asteggiano, Carla Gabriela

Published
2012
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