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

Autor: 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, Asteggiano, Carla Gabriela
Zdroj: Journal of Bone & Joint Surgery, American Volume; 6/6/2012, Vol. 94 Issue 11, pe761-6, 1p
Databáze: Complementary Index