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Updated: Jul 15, 2025

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
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骨髓衰竭和免疫缺陷与人类RAD50变体相关

Masatoshi Takagi1,2, Akihiro Hoshino1,3, Kristine Bousset4

  • 1Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.

Journal of clinical immunology
|October 4, 2023
PubMed
概括

RAD50基因变异导致类似于尼米根骨折综合征的疾病 (NBSLD),导致骨髓衰竭和B细胞免疫缺陷. 这项研究描述了一个患者,突出了RAD50的特征.

关键词:
骨髓功能衰竭 骨髓功能衰竭DNA 双链断裂发生在MRE11/RAD50/NBN复合体中.尼姆根破碎综合征是什么意思在 RAD50 缺陷中.

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