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维克萨斯综合征:瑞士国家回顾性队列研究

Louis Wolff1, Leo Caratsch2, Fabian Lötscher3,4

  • 1Division of Immunology and Allergy, Department of Medicine, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

Swiss medical weekly
|March 25, 2025
PubMed
概括

维克萨斯综合征是一种体质的UBA1突变疾病,表现出各种症状. 有效的治疗方法包括JAK抑制剂,阿扎丁和干细胞移植,感染是死亡的主要原因.

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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