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在PMVK中,一种新型的同卵性变异与增强的IL1β分泌和类似于高IgD综合征的表型有关

Amit Jairaman1, Vaishnavi Ashok Badiger1, Spoorthy Raj2

  • 1Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.

Clinical genetics
|November 29, 2023
PubMed
概括

基酸激酶 (PMVK) 的双变异导致自身炎症性疾病,扩大了这些疾病的已知遗传原因. 这项研究在患有类似高IgD综合征的表型的儿童中发现了一种新的PMVK变异.

关键词:
隐藏 隐藏 在 隐藏.一个IL1ββ.这就是PMVK.自发炎症是一种自发炎症.过高IgD综合征是什么梅瓦诺酸的途径单核细胞是一种单核细胞.胺酸酸激酶酶的使用方法

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