Title |
Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
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Published in |
Blood, February 2016
|
DOI | 10.1182/blood-2016-01-694331 |
Pubmed ID | |
Authors |
Andrew Perkins, Xiangmin Xu, Douglas R. Higgs, George P. Patrinos, Lionel Arnaud, James J. Bieker, Sjaak Philipsen, the KLF1 Consensus Workgroup |
Abstract |
Until recently our approach to the analysis of human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, analysing the globin loci in cases of thalassemia. As sequencing has become increasingly accessible, a larger panel of genes is now analysed and whole exome/genome sequencing is applied in cases where no variants are found in the candidate genes. Using such approaches in patients with unexplained anemias, we have discovered that a broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, previously considered to be extremely rare causes of human genetic disease. |
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Australia | 1 | 8% |
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Unknown | 8 | 62% |
Demographic breakdown
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Scientists | 6 | 46% |
Science communicators (journalists, bloggers, editors) | 1 | 8% |
Mendeley readers
Geographical breakdown
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Nursing and Health Professions | 2 | 3% |
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