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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Blood
Hauptverfasser: Perkins, Andrew, Xu, Xiangmin, Higgs, Douglas R., Patrinos, George P., Arnaud, Lionel, Bieker, James J., Philipsen, Sjaak
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Hematology 2016
Schlagworte:
Online Zugang: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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