Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis‐associated genes in the Slovenian family with idiopathic erythrocytosis
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چکیده
منابع مشابه
Idiopathic erythrocytosis: a disappearing entity.
Erythrocytosis results when there is an increased red cell mass and thus an increased hemoglobin. The causes can be divided into primary intrinsic defects of the erythroid progenitor cell and secondary defects, where factors external to the erythroid compartment are responsible. Both can then be further divided into congenital and acquired categories. Congenital causes include mutations of the ...
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Idiopathic erythrocytosis (IE) is characterized by an increase of red blood cell mass without an identified cause. Its diagnosis is based on the exclusion of polycythemia vera (PV), secondary acquired polycythemias and various congenital primary and secondary polycythemias. The frequency of IE has been estimated to be 1.1 per 1000 subjects, which is higher than that observed in PV. Heterogeneou...
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15 صفحه اولInvestigation of Genetic Disturbances in Oxygen Sensing and Erythropoietin Signaling Pathways in Cases of Idiopathic Erythrocytosis
Background. Idiopathic erythrocytosis is the term reserved for cases with unexplained origins of abnormally increased hemoglobin after initial investigation. Extensive molecular investigation of genes associated with oxygen sensing and erythropoietin signaling pathways, in those cases, usually involves sequencing all of their exons and it may be time consuming. Aim. To perform a strategy for mo...
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ژورنال
عنوان ژورنال: Journal of Clinical Laboratory Analysis
سال: 2021
ISSN: 0887-8013,1098-2825
DOI: 10.1002/jcla.23715