A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate.
ext2 中的一种新突变通过减少硫酸乙酰肝素的合成,导致遗传性多发性外生骨疣
期刊:Genetics and Molecular Biology
影响因子:1.3
doi:10.1590/1678-4685-GMB-2020-0334
Xian Caixia, Zhu Mingwei, Nong Tianying, Li Yiqiang, Xie Xingmei, Li Xia, Li Jiangui, Li Jingchun, Wu Jianping, Shi Weizhe, Wei Ping, Xu Hongwen, Tang Ya-Ping