咨询与建议

限定检索结果

文献类型

  • 1 篇 期刊文献

馆藏范围

  • 1 篇 电子文献
  • 0 种 纸本馆藏

日期分布

学科分类号

  • 1 篇 医学
    • 1 篇 临床医学

主题

  • 1 篇 congenital disor...
  • 1 篇 case report
  • 1 篇 atp6ap1 mutation
  • 1 篇 hepatopathy
  • 1 篇 cognitive impair...
  • 1 篇 immunodeficiency

机构

  • 1 篇 department of pe...
  • 1 篇 department of pa...

作者

  • 1 篇 mei-xiong yang
  • 1 篇 xiu-qi chen
  • 1 篇 qing tang
  • 1 篇 xia yang
  • 1 篇 lian-cheng lan
  • 1 篇 li huang
  • 1 篇 qing-wen shan
  • 1 篇 zi-li lv

语言

  • 1 篇 英文
检索条件"主题词=ATP6AP1 mutation"
1 条 记 录,以下是1-10 订阅
排序:
Congenital disorder of glycosylation caused by mutation of atp6ap1 gene (c.1036G>A) in a Chinese infant: A case report
收藏 引用
World Journal of Clinical Cases 2021年 第26期9卷 7876-7885页
作者: Xia Yang Zi-Li Lv Qing Tang Xiu-Qi Chen Li Huang Mei-Xiong Yang Lian-Cheng Lan Qing-Wen Shan Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanning 530021Guangxi Zhuang Autonomous RegionChina Department of Pathology The First Affiliated Hospital of Guangxi Medical UniversityNanning 530021Guangxi Zhuang Autonomous RegionChina
BACKGROUND The atp6ap1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases(V-atpase)is located on chromosome *** in certain subunits or accessory subunits of the V-atpase can lead... 详细信息
来源: 维普期刊数据库 维普期刊数据库 评论