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病例报告: 遗传性细胞瘤病例的整体外组测序,具有意想不到的低HbA1c

Lu Pang1, Ziyi Zeng1, Yadi Ding1

  • 1Department of Clinical Laboratory, Peking University First Hospital, Beijing, China.

Frontiers in medicine
|December 27, 2023
PubMed
概括

遗传性圆细胞症是一种红细胞疾病,与罕见的SPTB基因突变 (c.2303G>A) 有关. 整个外因组测序发现了这种突变,有助于诊断和遗传咨询这种遗传性疾病.

关键词:
这是一个SPTB基因.案例报告案例报告糖化血红素的血红素糖化血红素.遗传性圆细胞结合症是遗传性的整体外基因组测序的测序

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