Erythroid Transcription Factor EKLF/KLF1 Mutation Causing Congenital Dyserythropoietic Anemia Type IV in a Patient of Taiwanese Origin: Review of All Reported Cases and Development of a Clinical Diagnostic Paradigm

KLF1 is an erythroid specific transcription factor that is involved in erythroid lineage commitment, globin switching and terminal red blood cell maturation. Various mutations of KLF1 have been identified in humans, which has led to both benign and pathological phenotypes. The E325K mutation, within...

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Veröffentlicht in:Blood Cells Mol Dis
Hauptverfasser: Jaffray, Julie A., Mitchell, W. Beau, Gnanapragasam, Merlin Nithya, Seshan, Surya V, Guo, Xinhuo, Westhoff, Connie M., Bieker, James J., Manwani, Deepa
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2013
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4560093/
https://ncbi.nlm.nih.gov/pubmed/23522491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2013.02.006
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