Ontology highlight
ABSTRACT:
SUBMITTER: Varricchio L
PROVIDER: S-EPMC6959163 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
Haematologica 20190314 12
Congenital dyserythropoietic anemia type IV is caused by a heterozygous mutation, Glu325Lys (E325K), in the KLF1 transcription factor. Molecular characteristics of this disease have not been clarified, partly due to its rarity. We expanded erythroid cells from a patient's peripheral blood and analyzed its global expression pattern. We find that a large number of erythroid pathways are disrupted, particularly those related to membrane transport, globin regulation, and iron utilization. The altere ...[more]