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A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppre...
Autores principales: | Delgado, M. A., Martinez-Domenech, G., Sarrión, P., Urreizti, R., Zecchini, L., Robledo, H. H., Segura, F., de Kremer, R. Dodelson, Balcells, S., Grinberg, D., Asteggiano, C. G. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4166712/ https://www.ncbi.nlm.nih.gov/pubmed/25230886 http://dx.doi.org/10.1038/srep06407 |
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