Associated Papers
A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma.
Guo X et al.
Genetic Testing and Molecular Biomarkers, 2021
Clinical characteristics of hereditary multiple exostoses: a retrospective study of mainland chinese cases in recent 23 years.
Guo XL et al.
Journal of Huazhong University of Science and Technology. Medical Sciences = Hua Zhong Ke Ji Da Xue Xue Bao. Yi Xue Ying De Wen Ban = Huazhong Keji Daxue Xuebao. Yixue Yingdewen Ban, 2014
[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].
Zhou YA et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
One third of Japanese patients with multiple osteochondromas may have mutations in genes other than EXT1 or EXT2.
Kojima H et al.
Genetic Testing, 2008
Comparison of fluorescent single-strand conformation polymorphism analysis and denaturing high-performance liquid chromatography for detection of EXT1 and EXT2 mutations in hereditary multiple exostoses.
Dobson-Stone C et al.
European Journal of Human Genetics : Ejhg, 2000
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