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Updated: May 21, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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在NLRP3的LRR域中,有两种新型变异导致白血脑病:一个案例报告

Zhibo Feng1,2,3, Na Wu1,2,4, Yuxia Shao1,2,5

  • 1Department of Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences & Peking Union Medical College; State Key Laboratory of Complex Severe and Rare Diseases, PUMCH, 100730 Beijing, China.

Discovery medicine
|March 21, 2025
PubMed
概括

这项研究在中国患者中发现了两种新的NLRP3基因变异,这些患者患有NLRP3相关的自身炎症性疾病 (NLRP3-AID). 这些发现扩大了对这种罕见疾病中神经损伤的理解,包括白脑病变.

关键词:
与NLRP3相关的自身炎症性疾病自发炎性疾病自发炎性疾病.低氨酸相关的周期性综合征脑白细胞病变 (leukoencephalopathy) 是一种脑白细胞病变.

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