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

SERPINC1 mutations and thrombotic events in inherited antithrombin deficiency: a study on the han population of East China

SERPINC1 突变与遗传性抗凝血酶缺乏症的血栓事件:一项针对中国东部汉族人群的研究

Xu, Fei; Chen, Xiaoli; Xu, Qiyu; Zou, Anqing; Li, Xiaolong; Wang, Mingshan; Yang, Lihong; Xie, Haixiao

Novel mutation SLFN14 T853fs associated with inherited macrothrombocytopenia.

与遗传性巨血小板减少症相关的SLFN14 T853fs新突变

Xie Haixiao, Tang Shiyi, Shao Jianmin, Yang Ming, Tong Huida, Zhang Linhua, Zhong Mingzhu, Yu Xiaomin, Bi Laixi, Wang Yuming, Ou Rongying, Ling Chen, Zhu Liqing

Novel compound heterozygous mutations in plasminogen (p.Gly568Arg/p.Ala620Thr) impair protein structure and function in type II deficiency: mechanistic insights into a hereditary thrombogenic disorder

纤溶酶原中新的复合杂合突变(p.Gly568Arg/p.Ala620Thr)会损害II型纤溶酶原缺乏症中的蛋白质结构和功能:对一种遗传性血栓形成性疾病的机制性见解

Lu, Yifan; Wang, Fengjiao; Yu, Dandan; Xie, Haixiao; Jin, Yanhui; Wang, Mingshan; Yang, Lihong

The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies

中国东南地区因子XI缺乏症的谱系:四种常见变异型可解释大部分缺乏症

Zhang, Ke; Qin, Langyi; Xu, Fei; Ye, Longying; Wen, Mengzhen; Pan, Jingye; Yang, Lihong; Wang, Mingshan; Xie, Haixiao

Analysis of an Inherited FXII Deficiency Pedigree Associated with Double Heterozygous Mutations in the F12 Gene

对与F12基因双杂合突变相关的遗传性FXII缺乏症家系的分析

Zeng, Manlin; Jia, Kaiqi; Xie, Haixiao; Xie, Yaosheng; Yang, Lihong; Chen, Yuan; Jin, Yanhui; Wang, Mingshan