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Updated: Jun 29, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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在AIRE的新型同卵性突变导致APS-1和基于生物信息学分析的潜在机制

Huiping Wu1, Yiqi Mo1, Shiwen Yu1

  • 1Department of Pediatric Endocrine, Wenzhou Yuying Children's Hospital, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

Heliyon
|March 25, 2024
PubMed
概括

自免疫多内分泌综合征1型 (APS-1) 是一种罕见的遗传疾病. 这项研究确定了中国患者的新型AIRE基因突变,并揭示了常见的临床特征和潜在的免疫机制.

关键词:
在 AIRE 基因中.抗原呈现方式1型自身免疫多内分泌综合征 1型自身免疫多内分泌综合征抗微生物药物的预防性使用.

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