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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Publicado en:Blood Cells Mol Dis
Autores principales: Jaffray, Julie A., Mitchell, W. Beau, Gnanapragasam, Merlin Nithya, Seshan, Surya V, Guo, Xinhuo, Westhoff, Connie M., Bieker, James J., Manwani, Deepa
Formato: Artigo
Lenguaje:Inglês
Publicado: 2013
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Article
Acceso en línea: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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