Registro completo de metadatos
| Campo DC | Valor | Lengua/Idioma |
|---|---|---|
| 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 | 2017-10-23T18:09:31Z | - |
| dc.date | 2017-10-23T18:09:31Z | - |
| dc.date | 2013-02 | - |
| dc.date | 2017-08-22T18:11:16Z | - |
| dc.date.accessioned | 2019-04-29T15:49:45Z | - |
| dc.date.available | 2019-04-29T15:49:45Z | - |
| 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://rodna.bn.gov.ar:8080/jspui/handle/bnmm/303135 | - |
| dc.description | 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.description | Fil: Sarrión, P.. Universidad de Barcelona; España | - |
| dc.description | Fil: Sangorrin, A.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Urreizti, R.. Universidad de Barcelona; España | - |
| dc.description | Fil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; Argentina | - |
| dc.description | Fil: Artuch, R.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Martorell, L.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Armstrong, J.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Anton, J.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Torner, F.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Vilaseca, M. A.. Hospital Sant Joan de Déu; España | - |
| dc.description | Fil: Nevado, J.. Hospital Universitario La Paz; España | - |
| dc.description | Fil: Lapunzina, P.. Hospital Universitario La Paz; España | - |
| dc.description | Fil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina | - |
| dc.description | Fil: Balcells, S.. Universidad de Barcelona; España | - |
| dc.description | Fil: Grinberg, D.. Universidad de Barcelona; España | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| dc.format | application/pdf | - |
| 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 | info:eu-repo/semantics/openAccess | - |
| dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | - |
| dc.source | reponame:CONICET Digital (CONICET) | - |
| dc.source | instname:Consejo Nacional de Investigaciones Científicas y Técnicas | - |
| dc.source | instacron:CONICET | - |
| dc.subject | Multiple osteochondromas | - |
| dc.subject | METABOLIC DISORDERS | - |
| dc.subject | Bone tumours | - |
| dc.subject | EXT genes | - |
| dc.subject | Bioquímica y Biología Molecular | - |
| dc.subject | Ciencias Biológicas | - |
| dc.subject | CIENCIAS NATURALES Y EXACTAS | - |
| dc.title | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | - |
| dc.type | info:eu-repo/semantics/article | - |
| dc.type | info:eu-repo/semantics/publishedVersion | - |
| dc.type | info:ar-repo/semantics/articulo | - |
| Aparece en las colecciones: | CONICET | |
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