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http://hdl.handle.net/2445/125924
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DC Field | Value | Language |
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dc.contributor.author | Sarrión Pérez-Caballero, Patricia | - |
dc.contributor.author | Sangorrin, A. | - |
dc.contributor.author | Urreizti, Roser | - |
dc.contributor.author | Delgado, A. | - |
dc.contributor.author | Artuch Iriberri, Rafael | - |
dc.contributor.author | Martorell, L. | - |
dc.contributor.author | Armstrong i Morón, Judith | - |
dc.contributor.author | Antón López, Jordi | - |
dc.contributor.author | Torner Rubies, Ferran | - |
dc.contributor.author | Vilaseca, M. A. | - |
dc.contributor.author | Nevado, J. | - |
dc.contributor.author | Lapunzina, Pablo | - |
dc.contributor.author | Asteggiano, Carla | - |
dc.contributor.author | Balcells Comas, Susana | - |
dc.contributor.author | Grinberg Vaisman, Daniel Raúl | - |
dc.date.accessioned | 2018-11-08T14:46:15Z | - |
dc.date.available | 2018-11-08T14:46:15Z | - |
dc.date.issued | 2013-02-26 | - |
dc.identifier.issn | 2045-2322 | - |
dc.identifier.uri | http://hdl.handle.net/2445/125924 | - |
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.format.extent | 7 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Nature Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1038/srep01346 | - |
dc.relation.ispartof | Scientific Reports, 2013, vol. 3, num. 1346, p. 1-7 | - |
dc.relation.uri | https://doi.org/10.1038/srep01346 | - |
dc.rights | cc-by (c) Sarrión Pérez-Caballero, Patricia et al., 2013 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Genètica, Microbiologia i Estadística) | - |
dc.subject.classification | Genètica | - |
dc.subject.classification | Teixit ossi | - |
dc.subject.classification | Ossos | - |
dc.subject.classification | Malalties de l'aparell locomotor | - |
dc.subject.other | Genetics | - |
dc.subject.other | Bone | - |
dc.subject.other | Bones | - |
dc.subject.other | Enfermedades del aparato locomotor | - |
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.identifier.idgrec | 621637 | - |
dc.date.updated | 2018-11-08T14:46:15Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 23439489 | - |
Appears in Collections: | Articles publicats en revistes (Fonaments Clínics) Articles publicats en revistes (Genètica, Microbiologia i Estadística) Articles publicats en revistes (Cirurgia i Especialitats Medicoquirúrgiques) |
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File | Description | Size | Format | |
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621637.pdf | 578.79 kB | Adobe PDF | View/Open |
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