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A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas

Multiple osteochondromas (MO) is an autosomal inherited disease that is characterized by benign bone tumors. However, the underlying mechanism of MO at a molecular level requires further investigation. The majority of mutations associated with MO occur in the exostosin glycosyltransferase genes (EXT...

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Detalles Bibliográficos
Autores principales: Chen, Zhonghua, Bi, Qing, Kong, Mingxiang, Cao, Li, Ruan, Weiwei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144921/
https://www.ncbi.nlm.nih.gov/pubmed/30250583
http://dx.doi.org/10.3892/ol.2018.9248