Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

  title={Kr{\"u}ppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.},
  author={John S. Waye and Barry Eng},
  journal={International journal of laboratory hematology},
  volume={37 Suppl 1},
Krüppel-like factor 1 (KLF1) is a pleiotropic erythroid transcription factor that is essential for hematopoiesis. KLF1 mutations have been associated with severe hematologic disorders, including congenital dyserythropoietic anemia type IV (CDAN4) due to a dominant-negative missense mutation (c.973G>A, p.Glu325Lys) and transfusion-dependent hemolytic anemia in compound heterozygotes for loss-of-function mutations. In addition, several benign hematologic conditions are due to KLF1… CONTINUE READING


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