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山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (7): 114-119.doi: 10.6040/j.issn.1671-7554.0.2024.0284

• 病例报道 • 上一篇    下一篇

POLR3A复合杂合突变致髓鞘化低下性脑白质营养不良7型的遗传学分析

王一丹,杨亚亚,杜润璇,高健   

  1. 河北省人民医院生殖遗传科, 河北 石家庄 050051
  • 发布日期:2024-09-20
  • 通讯作者: 高健. E-mail:gaojian8703@163.com
  • 基金资助:
    河北省卫健委基金项目(GZ2020033);河北省政府资助专科带头人培养项目(2018674)

  • Published:2024-09-20

关键词: 髓鞘化低下性脑白质营养不良7型, POLR3A基因, 剪接突变, 错义突变, 全外显子组测序

中图分类号: 

  • R715.5
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