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Haploinsufficiency of the essential gene RpS12 causes defects in erythropoiesis and hematopoietic stem cell maintenance

2021-05-04

Abstract excerpt

Ribosomal protein (Rp) gene haploinsufficiency can result in Diamond-Blackfan Anemia (DBA), characterized by defective erythropoiesis and skeletal defects. Some mouse Rp mutations recapitulate DBA phenotypes, although others lack erythropoietic or skeletal defects. We generated a conditional knockout mouse to partially delete RpS12 , which results in homozygous embryonic lethality. Rps12 +/- mice have growth an...

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Literature Corpus work
d1a97126-fedd-5fb5-b3f7-644a2203ce13
DOI
10.1101/2021.05.04.442585
Open publication

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Haploinsufficiency of the essential gene RpS12 causes defects in erythropoiesis and hematopoietic stem cell maintenanceDOI 10.1101/2021.05.04.442585
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