ext1 gene
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scholarly journals Novel deletion and 2397 G>T mutations of the EXT1 gene identified in two Chinese pedigrees with hereditary multiple exostoses using exon sequencing

2020 ◽  
Vol 9 (5) ◽  
pp. 619-628
Author(s):  
Yang Shen ◽  
Lei Zhang ◽  
Bosong Chen ◽  
Liangchao Dong ◽  
Yicheng Wang ◽  
...  
Keyword(s):  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Ext1 Gene

scholarly journals EXT1 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Ext1 Gene

scholarly journals Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing

2016 ◽  
Vol 15 (2) ◽  
pp. 657-664 ◽  
Author(s):  
Guolin Hong ◽  
Xiaoyan Guo ◽  
Wei Yan ◽  
Qianqian Li ◽  
Hailing Zhao ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Novel Mutation ◽  
Multiple Osteochondromas ◽  
Ext1 Gene

scholarly journals Deletion of exon 8 from the EXT1 gene causes multiple osteochondromas (MO) in a family with three affected members

SpringerPlus ◽  
2016 ◽  
Vol 5 (1) ◽  
Author(s):  
Lei Zhuang ◽  
Simon D. Gerber ◽  
Stefan Kuchen ◽  
Peter M. Villiger ◽  
Beat Trueb
Keyword(s):  
Multiple Osteochondromas ◽  
Ext1 Gene

scholarly journals Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e72316 ◽  
Author(s):  
Feng Zhang ◽  
Jinlong Liang ◽  
Xiong Guo ◽  
Yingang Zhang ◽  
Yan Wen ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Exome Sequencing ◽  
Novel Mutation ◽  
Multiple Osteochondromas ◽  
Ext1 Gene

A Novel Nonsense Mutation of the EXT1 Gene in an Argentinian Patient with Multiple Hereditary Exostoses

2012 ◽  
Vol 94 (11) ◽  
pp. e76-1-6 ◽  
Author(s):  
María Andrea Delgado ◽  
Patricia Sarrión ◽  
Nydia Azar ◽  
Lorena Zecchini ◽  
Hector Hugo Robledo ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Multiple Hereditary Exostoses ◽  
Ext1 Gene

A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree

Pathology ◽  
2010 ◽  
Vol 42 (1) ◽  
pp. 91-93
Author(s):  
Yuchan Li ◽  
Jian Wang ◽  
Huaiyuan Li ◽  
Jing Wang ◽  
Xuefeng Wang ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Hereditary Multiple Exostoses ◽  
Multiple Exostoses ◽  
Ext1 Gene
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