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Simultaneous Quantification of T-Cell Receptor Excision Circles TRECs and K-Deleting Recombination Excision Circles KRECs by Real-time PCR
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通过使用TREC进行新生儿查,发现了一种罕见的TP63相关淋巴缺血症病例

Andrey Marakhonov1, Elena Serebryakova2, Anna Mukhina3

  • 1Research Centre for Medical Genetics, 115522 Moscow, Russia.

International journal of molecular sciences
|October 16, 2024
PubMed
概括

通过俄罗斯扩大新生儿查计划,在新生儿身上发现了一种罕见的TP63突变,揭示了T细胞淋巴缺血. 这凸显了在TP63相关疾病中免疫学评估的重要性.

关键词:
克里斯塔尼亚克克里斯塔尼亚克克里斯塔尼亚克克里斯塔尼亚克TP6363 的时间.特雷克 (Trecc) 是一个三角形.裂嘴唇/口腔口腔的一个部分.皮肤外膜发育不良症是什么这种状况叫做ectrodactyly.淋巴细胞减少症 (lymphopenia) 是一种淋巴细胞减少症.新生儿查 新生儿查

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