中国当代儿科杂志
  中文版
  English Version
  ISSN 2096-9228(online)
ISSN 1008-8830(print)
CN 43-1301/R
 
中国当代儿科杂志  2023, Vol. 25 Issue (12): 1276-1281    DOI:10.7499/j.issn.1008-8830.2307114
论著·罕见病研究 最新目录| 下期目录| 过刊浏览| 高级检索 |
罕见病研究:GPAA1基因突变导致糖基磷脂酰肌醇生物合成缺陷15型
陈秋蓉1,2, 张朕杰1, 卢一岫1, 袁孙碧歆1, 李冀1
1.中国医学科学院北京协和医院儿科,北京 100730
2.广东省妇幼保健院儿科,广东广州 515000
Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study
CHEN Qiu-Rong, ZHANG Zhen-Jie, LU Yi-Xiu, YUAN Sun-Bi-Xin, LI Ji
Department of Pediatrics, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China (Li J, Email: 42115165@qq.com)