日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

MYH7, c.2011C>T, is responsible for congenital scoliosis in a Chinese family

MYH7基因c.2011C>T突变是导致中国某家族先天性脊柱侧弯的原因。

Wei, Ping; Xu, Fulong; Xian, Caixia; Liu, Yanhan; Xu, Yibo; Zhang, Ting; Shi, Weizhe; Huang, Sihong; Zhou, Xiang; Zhu, Mingwei; Xu, Hongwen

Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation

在中国一个患有变形性骨发育不良的家族中发现了一种新的TRPV4新生突变,该突变抑制了软骨形成分化。

Wei, Ping; Shi, Weizhe; Nong, Tianying; Xian, Caixia; Li, Xia; Li, Zhaohui; Li, Xin; Wu, Jianping; Shang, Liyuan; Xu, Fulong; Xu, Yibo; Xu, Hongwen; Zhu, Mingwei

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

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