Article

The mouse <i>Klf1 Nan</i> variant impairs nuclear condensation and erythroid maturation

2018-11-22

Abstract excerpt

<h4>ABSTRACT</h4> Krüppel-like factor 1 (KLF1) is an essential transcription factor for erythroid development, as demonstrated by Klf1 knockout mice which die around E14 due to severe anemia. In humans, >65 KLF1 variants, causing different erythroid phenotypes, have been described. The Klf1 Nan variant, a single amino acid substitution (p.E339D) in the DNA binding domain, causes hemolytic anemia and is dominant...

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Literature Corpus work: 4203490b-a413-50ed-ae9b-2440360cde74
DOI: 10.1101/477059

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