Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis
An erythrocytosis is present when the red blood cell mass is increased, demonstrated as elevated hemoglobin and hematocrit in the laboratory evaluation. Congenital predispositions for erythrocytosis are rare, with germline variants in several genes involved in oxygen sensing (VHL, EGLN1, and EPAS1),...
Main Authors: | Aleša Kristan, Tadej Pajič, Aleš Maver, Tadeja Režen, Tanja Kunej, Rok Količ, Andrej Vuga, Martina Fink, Špela Žula, Helena Podgornik, Saša Anžej Doma, Irena Preložnik Zupan, Damjana Rozman, Nataša Debeljak |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2021-07-01
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Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2021.689868/full |
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