MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMAS

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...

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Autor principal: 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
Formato: article
Lenguaje:Inglés
Publicado: 2019
Materias:
Multiple osteochondromas; METABOLIC DISORDERS; Bone tumours; EXT genes
Acceso en línea:http://hdl.handle.net/11086/13439
Aporte de:
Repositorio Digital Universitario (UNC) de Universidad Nacional de Córdoba

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