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Haemoglobinopathia Ypsilanti – A rare, but important differential diagnosis to polycythaemia vera()

We present a case of a mother and daughter who were initially diagnosed with polycythaemia vera and treated with venesectio. As JAK2 V6217F/exon 12 mutation analyses became available, these were performed and turned out negative. Haemoglobin electrophoresis was performed and the patients were found...

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Autors principals: Nygaard, Marietta, Petersen, Jesper, Bjerrum, Ole W.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850385/
https://ncbi.nlm.nih.gov/pubmed/24371790
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.lrr.2013.09.002
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