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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Blood Cells Mol Dis
Päätekijät: Jaffray, Julie A., Mitchell, W. Beau, Gnanapragasam, Merlin Nithya, Seshan, Surya V, Guo, Xinhuo, Westhoff, Connie M., Bieker, James J., Manwani, Deepa
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
Aiheet:
Article
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia