dc.contributor.author | P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg | |
dc.date.accessioned | 2019-10-29T16:05:35Z | |
dc.date.available | 2019-10-29T16:05:35Z | |
dc.date.issued | 2013 | |
dc.identifier.issn | 2045-2322 | |
dc.identifier.uri | | |
dc.identifier.uri | http://hdl.handle.net/11086/13439 | |
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.Wefound the mutant allele in 37 patients, 29 inEXT1 and 8 inEXT2. 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. | en |
dc.description.uri | | |
dc.format.medium | Impreso | |
dc.language.iso | eng | en |
dc.publisher | | |
dc.rights | Attribution-NonCommercial-ShareAlike 4.0 International | * |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-sa/4.0/ | * |
dc.subject | Multiple osteochondromas; METABOLIC DISORDERS; Bone tumours; EXT genes | en |
dc.title | MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMAS | en |
dc.type | article | en |
dc.description.version | publishedVersion | |
dc.journal.city | | |
dc.journal.country | Estados Unidos | |
dc.journal.editorial | Macmillan Publishers Limited | |
dc.journal.pagination | 1346-1353 | |
dc.journal.referato | Con referato | |
dc.journal.title | Scientific Reports | |
dc.journal.tome | | |
dc.journal.volume | 3 | |
dc.description.field | Otras Ciencias de la Salud | |
dc.identifier.eissn | | |