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A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia.
Am J Hum Genet. 2010 Nov 12;87(5):721-7. doi: 10.1016/j.ajhg.2010.10.010. Epub 2010 Nov 4.
Am J Hum Genet. 2010.
PMID: 21055716
Free PMC article.
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.
Huang J, Zhang X, Liu D, Wei X, Shang X, Xiong F, Yu L, Yin X, Xu X.
Huang J, et al.
Eur J Hum Genet. 2015 Oct;23(10):1341-8. doi: 10.1038/ejhg.2014.291. Epub 2015 Jan 14.
Eur J Hum Genet. 2015.
PMID: 25585695
Free PMC article.
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