A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

Artigo Revisado por pares

A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

2012; Wolters Kluwer; Volume: 94; Issue: 11 Linguagem: Inglês

10.2106/jbjs.j.01920

ISSN

1535-1386

Autores

María Andrea Delgado, Patricia Sarrión, Nydia Beatriz Azar, Lorena Zecchini, Hector Hugo Robledo, Florencio Pablo Segura, Susana Balcells, Daniel Grinberg, Raquel Dodelson de Kremer, Carla Asteggiano,

Tópico(s)

Bone health and treatments

Resumo

Delgado, María Andrea BS1; Sarrión, Patricia BS3; Azar, Nydia MS1; Zecchini, Lorena MD4; Robledo, Hector Hugo MD4; Segura, Florencio MD, PhD4; Balcells, Susana PhD3; Grinberg, Daniel PhD3; Dodelson de Kremer, Raquel MD, PhD1; Asteggiano, Carla Gabriela PhD2 Author Information

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A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses