Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and...

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Autors principals: Sarrión, P., Sangorrin, A., Urreizti, R., Delgado, A., Artuch, R., Martorell, L., Armstrong, J., Anton, J., Torner, F., Vilaseca, M. A., Nevado, J., Lapunzina, P., Asteggiano, C. G., Balcells, S., Grinberg, D.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2013
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581825/
https://ncbi.nlm.nih.gov/pubmed/23439489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep01346
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