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),...

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Vydáno v:Front Genet
Hlavní autoři: Kristan, Aleša, Pajič, Tadej, Maver, Aleš, Režen, Tadeja, Kunej, Tanja, Količ, Rok, Vuga, Andrej, Fink, Martina, Žula, Špela, Podgornik, Helena, Anžej Doma, Saša, Preložnik Zupan, Irena, Rozman, Damjana, Debeljak, Nataša
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2021
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8327209/
https://ncbi.nlm.nih.gov/pubmed/34349782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2021.689868
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