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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Blood Cells Mol Dis
Main Authors: Jaffray, Julie A., Mitchell, W. Beau, Gnanapragasam, Merlin Nithya, Seshan, Surya V, Guo, Xinhuo, Westhoff, Connie M., Bieker, James J., Manwani, Deepa
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados