Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.

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第一作者： Aleša,Kristan

第一单位： Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

作者： Aleša,Kristan ^[1] ; Tadej,Pajič ^[2] ; Aleš,Maver ^[3] ; Tadeja,Režen ^[4] ; Tanja,Kunej ^[5] ; Rok,Količ ^[6] ; Andrej,Vuga ^[6] ; Martina,Fink ^[7] ; Špela,Žula ^[8] ; Helena,Podgornik ^[9] ; Saša,Anžej Doma ^[10] ; Irena,Preložnik Zupan ^[10] ; Damjana,Rozman ^[4] ; Nataša,Debeljak ^[1]

作者单位： Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. ^[1] Department of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.;Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.;Clinical Biochemistry, Faculty of Medicine, University of Maribor, Maribor, Slovenia. ^[2] Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[3] Centre for Functional Genomics and Bio-Chips, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. ^[4] Department of Animal Science, Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia. ^[5] Kemomed Research and Development, Kemomed Ltd., Ljubljana, Slovenia. ^[6] Medical Centre for Molecular Biology, Institute of Biochemistry and Molecular Genetics, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.;Department of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[7] Department of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[8] Department of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.;Clinical Biochemistry, Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia. ^[9] Department of Hematology, University Medical Centre Ljubljana, Ljubljana, Slovenia.;Department of Internal Medicine, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. ^[10]

关键词 NGS – next-generation sequencing diagnostics erythrocytosis iron metabolism rare disease (RD)targeted panel sequencing

DOI 10.3389/fgene.2021.689868

PMID 34349782

发布时间 2021-08-06

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