Associated Papers
[Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis].
You Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Li Y et al.
Medicine, 2018
Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
Mooij HL et al.
Journal of the American Heart Association, 2014
Clinical and molecular studies of EXT1/EXT2 in Bulgaria.
Stancheva-Ivanova MK et al.
Journal of Inherited Metabolic Disease, 2011
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb).
Jennes I et al.
Human Mutation, 2009
Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.
Lonie L et al.
Human Mutation, 2006
Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes.
Wuyts W et al.
Human Mutation, 2000
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.
Wuyts W et al.
American Journal of Human Genetics, 1998
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