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Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants

Until recently our approach to analyzing human genetic diseases has been to accurately phenotype patients and sequence the genes known to be associated with those phenotypes; for example, in thalassemia, the globin loci are analyzed. Sequencing has become increasingly accessible, and thus a larger p...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Perkins, Andrew, Xu, Xiangmin, Higgs, Douglas R., Patrinos, George P., Arnaud, Lionel, Bieker, James J., Philipsen, Sjaak
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4832505/
https://ncbi.nlm.nih.gov/pubmed/26903544
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-01-694331
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