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A <i>Krüppel-like factor 1</i> ( <i>KLF1</i> ) mutation associated with severe congenital dyserythropoietic anemia alters its DNA-binding specificity

2019-09-18

Abstract excerpt

Krüppel-like factor 1 (KLF1/EKLF) is a transcription factor that globally activates genes involved in erythroid cell development. Various mutations are identified in the human KLF1 gene. The E325K mutation causes congenital dyserythropoietic anemia (CDA) type IV, characterized by severe anemia and non-erythroid-related symptoms. The CDA mutation is in the second zinc finger of KLF1 at a position functionally invol...

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Literature Corpus work
f83834ce-8ac0-592d-b0db-fcccc2dde7b8
DOI
10.1101/774158
Open publication

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