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THPO突变导致遗传性血栓细胞血症的相对影响

Hiroyuki Kimura1, Masahiro Onozawa1, Toshihiro Matsukawa1

  • 1Department of Hematology, Graduate School of Medicine, Hokkaido University Faculty of Medicine, Sapporo, Japan.

Experimental hematology
|March 28, 2024
PubMed
概括

THPO基因的生殖系突变会通过增加血栓蛋白 (THPO) 生产而导致遗传性血栓细胞血症. 这些突变释放THPO转化,通常被上游ORF7.7抑制.

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