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...
Main 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 |
---|---|
Format: | publishedVersion |
Language: | eng |
Published: |
2019
|
Subjects: | |
Online Access: | http://hdl.handle.net/11086/13439 |
Similar Items
-
Oxidative stress and mitochondrial adaptive shift during pituitary tumoral growth
by: Sabatino, María Eugenia, et al.
Published: (2023) -
Pharmacological Modulation of the Cytosolic Oscillator Afects Glioblastoma Cell Biology
by: Wagner, Paula M., et al.
Published: (2024) -
PROLOGO A LA PRIMERA EDICION DE LA REVISTA DIGITAL EXT
by: Peralta, María Inés, et al.
Published: (2012) -
Enhancing structural diversity through chemical engineering of Ambrosia tenuifolia extract for novel anti-glioblastoma compounds
by: Adessi, Tonino G., et al.
Published: (2024) -
Rol antiinflamatorio y restaurador de la melatonina en el síndrome metabólico asociado a enfermedad periodontal en ratas
by: Vázquez Mosquera, Ana Paula
Published: (2024)