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Título:	Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
Autor/a:	Sarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti Frexedas, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, P.; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl
Otros autores:	Universitat de Barcelona
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.
Materia(s):	-Genètica -Teixit ossi -Ossos -Malalties de l'aparell locomotor -Genetics -Bone -Bones -Enfermedades del aparato locomotor
Derechos:	cc-by-nc-nd (c) Sarrión Pérez-Caballero, Patricia et al., 2013 http://creativecommons.org/licenses/by-nc-nd/3.0/es
Tipo de documento:	Artículo Artículo - Versión publicada
Editor:	Nature Publishing Group
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