dc.creator | Sarrión, P. | |
dc.creator | Sangorrin, A. | |
dc.creator | Urreizti, R. | |
dc.creator | Delgado, María Andrea | |
dc.creator | Artuch, R. | |
dc.creator | Martorell, L. | |
dc.creator | Armstrong, J. | |
dc.creator | Anton, J. | |
dc.creator | Torner, F. | |
dc.creator | Vilaseca, M. A. | |
dc.creator | Nevado, J. | |
dc.creator | Lapunzina, P. | |
dc.creator | Asteggiano, Carla Gabriela | |
dc.creator | Balcells, S. | |
dc.creator | Grinberg, D. | |
dc.date.accessioned | 2017-10-23T18:09:31Z | |
dc.date.accessioned | 2018-11-06T11:30:58Z | |
dc.date.available | 2017-10-23T18:09:31Z | |
dc.date.available | 2018-11-06T11:30:58Z | |
dc.date.created | 2017-10-23T18:09:31Z | |
dc.date.issued | 2013-02 | |
dc.identifier | Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, María Andrea; Artuch, R. ; et al.; Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas; Nature Publishing Group; Scientific Reports; 3; 2-2013; 1-7; 1346 | |
dc.identifier | http://hdl.handle.net/11336/26916 | |
dc.identifier | 2045-2322 | |
dc.identifier | CONICET Digital | |
dc.identifier | CONICET | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/1853909 | |
dc.description.abstract | 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 EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel. | |
dc.language | eng | |
dc.publisher | Nature Publishing Group | |
dc.relation | info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1038/srep01346 | |
dc.relation | info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/srep01346 | |
dc.relation | info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581825/ | |
dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Multiple osteochondromas | |
dc.subject | METABOLIC DISORDERS | |
dc.subject | Bone tumours | |
dc.subject | EXT genes | |
dc.title | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | |
dc.type | Artículos de revistas | |
dc.type | Artículos de revistas | |
dc.type | Artículos de revistas | |