The Fifth Affiliated Hospital of Sun Yat-Sen University
发明人:
Hong Shan,Pengfei Pang,Xiaojun Hu,Junjie Mao
申请号：
GB202000014
公开号：
GB2582410A
申请日:
2017.12.22
申请国别(地区):
GB
年份:
2020
代理人:
摘要：
Provided are DDX24 gene mutations and the use thereof, wherein the mutations include Glu271Lys, Lys11Glu and Arg436His. The mutations, i.e. Glu271Lys, Lys11Glu or Arg436His, of the DDX24 gene are significantly associated with the development of blood vessels. Interfering with DDX24 results in the occurrence of vascular malformations, and detecting the SNP site of DDX24 makes it possible to predict the occurrence of human vascular malformations.
