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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327209/
https://www.ncbi.nlm.nih.gov/pubmed/34349782
http://dx.doi.org/10.3389/fgene.2021.689868

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327209/
https://www.ncbi.nlm.nih.gov/pubmed/34349782
http://dx.doi.org/10.3389/fgene.2021.689868

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