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在CLDN25中失去了功能突变,导致Pelizaeus-Merzbacher类白血病变异症

Yosuke Hashimoto1, Claude Besmond2,3, Nathalie Boddaert2,4

  • 1Smurfit Institute of Genetics, Trinity College Dublin, D02 VF25, Dublin, Ireland.

Human molecular genetics
|March 17, 2024
PubMed
概括

一种新的Claudin-25 (CLDN-25) 突变通过破坏蛋白质局部化并可能增加细胞透性,导致Pelizaeus-Merzbacher类白血病. 这表明CLDN-25哈普洛缺陷在疾病中起作用.

关键词:
克劳迪因-25 类药物莱科迪斯德罗菲 (Leucodysdrophy) 是一种有机物.ZO-1 是一个ZO-1紧密的交叉路口紧密的连接

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