A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype.

Abstract excerpt

Red blood cell disorders can result in severe anemia. One such disease congenital dyserythropoietic anemia IV (CDA IV) is caused by the heterozygous mutation E325K in the transcription factor KLF1. However, studying the molecular basis of CDA IV is severely impeded by the paucity of suitable and adequate quantities of material from patients with anemia and the rarity of the disease. We, therefore, took a novel...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anemia, Dyserythropoietic, Congenital
• Share to Gene Expression Regulation