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MeSH:(N-Acetylglucosaminyltransferases)

1.A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses.

Zhi-guo XIE ; Zheng-mao HU ; Qian PAN ; Rui-fang ZHANG ; De-sheng LIANG ; Ling-qian WU ; Zhi-gao LONG ; He-ping DAI ; Kun XIA ; Jia-hui XIA

Chinese Journal of Medical Genetics 2006;23(2):147-150

4.Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis.

Ying BAI ; Ning LIU ; Shuang HU ; Qinghua WU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2019;36(5):451-455

6.Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas.

Xue-shuang HUANG ; Jian-shu LIU ; Hai-ou JIANG ; Qing-li QUAN ; Xiao-qing SHEN

Chinese Journal of Medical Genetics 2013;30(6):645-648

7.Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas.

Hai-Yan ZHU ; Ya-Li HU ; Ying YANG ; Xing WU ; Rui-Fang ZHU ; Xiang-Yu ZHU ; Hong-Lei DUAN ; Ying ZHANG ; Jin-Yong ZHOU

Chinese Medical Journal 2011;124(19):3054-3057

8.A splicing mutation of EXT1 in a Chinese pedigree with hereditary multiple exostoses.

Wei WANG ; Zheng-Qing QIU ; Hong-Mei SONG

Chinese Journal of Contemporary Pediatrics 2014;16(2):174-180

9.Potential coordination role between O-GlcNAcylation and epigenetics.

Donglu WU ; Yong CAI ; Jingji JIN

Protein & Cell 2017;8(10):713-723

10.Analysis of a multiple osteochondroma case caused by novel splice mutation (c.1164+1G to A) of EXT1 gene.

Xiaoyan GUO ; Wenxu CHEN ; Mingrui LIN ; Tengfei SHI ; Dianhua HUANG ; Zhihong WANG

Chinese Journal of Medical Genetics 2017;34(3):411-415

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