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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Geographical breakdown
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United States | 3 | 23% |
United Kingdom | 1 | 8% |
Australia | 1 | 8% |
Poland | 1 | 8% |
Unknown | 7 | 54% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 6 | 46% |
Scientists | 6 | 46% |
Science communicators (journalists, bloggers, editors) | 1 | 8% |
Mendeley readers
Geographical breakdown
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Japan | 1 | 1% |
United States | 1 | 1% |
Canada | 1 | 1% |
Unknown | 79 | 95% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 15 | 18% |
Student > Master | 9 | 11% |
Student > Postgraduate | 7 | 8% |
Other | 6 | 7% |
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Unknown | 11 | 13% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 14 | 17% |
Immunology and Microbiology | 3 | 4% |
Nursing and Health Professions | 2 | 2% |
Other | 4 | 5% |
Unknown | 10 | 12% |