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一种新型的AGR2变体导致异常的单体-二分体平衡,导致严重的呼吸和消化系统症状

Sanami Takada1, Silvanna Gallo2,3, Sebastian Silva3,4

  • 1Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, 162-8655, Japan.

Journal of clinical immunology
|December 14, 2024
PubMed
概括

前梯度2 (AGR2) 中的一种新型遗传变异通过破坏蛋白质稳定性和二分化,导致反复出现的呼吸道感染和消化问题. 这一发现揭示了罕见遗传疾病RIFTD背后的机制.

关键词:
在 AGR2 中,AGR2 是迪默 (Dimer) 是一个数字.双硫化物债券是一种二硫化物债券.异源 (exome) 是指外源 (exome) 的一个部分.肺移植 肺移植 肺移植粘真菌 粘真菌 粘真菌蛋白质不稳定性 蛋白质不稳定性

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