Runx1 (runt related transcription factor 1)

基因基本信息

Runx1 基因表型（MGI）

Mutations affect hematopoiesis, and in some cases result in defective angiogenesis and intraventricular hemorrhage. Null homozygotes die by embryonic day 12.5; heterozygotes have reduced erythroid and myeloid progenitor numbers. Heterozygosity for the disease-associated p.R188Q mutation affects hematopoietic cell development in bone marrow, which leads to impaired blood coagulation.

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