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rdf:type
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Description
| - Childhood essential thrombocythemia (ET) is a very rare disease belonging to a group of Bcr-Abl negative myeloproliferative disorders. Our study involved 15 pediatric ET patients diagnosed at the age of 6-17 years. Monoclonal hematopoiesis was detected only in one patient, who is recently an adult (diagnosed at the age of 9). JAK2 V617F was detected in whole blood DNA by allele-specific (AS)-PCR and BsaXI restriction analysis. In our hands AS-PCR sensitivity reached the detection limit of one homozygous cell in 2000 normal cells. In addition, more sensitive AS-RT-PCR was performed on RNA isolated from granulocytes and platelets from peripheral blood. Only one patient was JAK2 V617F-positive as detected by these established protocols. In the clonal assay of hematopoietic progenitors, most patients showed hypersensitivity to erythropoietin (Epo) in vitro with the growth of Epo-independent erythroid colonies (EECs) in some of them. Over 300 myeloid colonies were picked and analyzed by real-time allelic d
- Childhood essential thrombocythemia (ET) is a very rare disease belonging to a group of Bcr-Abl negative myeloproliferative disorders. Our study involved 15 pediatric ET patients diagnosed at the age of 6-17 years. Monoclonal hematopoiesis was detected only in one patient, who is recently an adult (diagnosed at the age of 9). JAK2 V617F was detected in whole blood DNA by allele-specific (AS)-PCR and BsaXI restriction analysis. In our hands AS-PCR sensitivity reached the detection limit of one homozygous cell in 2000 normal cells. In addition, more sensitive AS-RT-PCR was performed on RNA isolated from granulocytes and platelets from peripheral blood. Only one patient was JAK2 V617F-positive as detected by these established protocols. In the clonal assay of hematopoietic progenitors, most patients showed hypersensitivity to erythropoietin (Epo) in vitro with the growth of Epo-independent erythroid colonies (EECs) in some of them. Over 300 myeloid colonies were picked and analyzed by real-time allelic d (en)
- Dětská esenciální trombocytémie (ET) patří mezi vzácné onemocnění ze skupiny Bcr-Abl negativních myeloproliferativních onemocnění. Naše studie zahrnuje 15 dětských pacientů s ET, kteří byli diagnostikování ve věku 6-17 let ... (cs)
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Title
| - JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia
- JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia (en)
- Genotypování JAK2 odhalilo u pediatrických pacientů s trombocytemií vzácně se vyskytující erythroidní kolonie pozitivní na JAK2 V617F (cs)
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skos:prefLabel
| - JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia
- JAK2 genotyping (Real-time allelic discrimination) reveals rare JAK2 V617F-positive erythroid colonies in pediatric patients with essential thrombocythemia (en)
- Genotypování JAK2 odhalilo u pediatrických pacientů s trombocytemií vzácně se vyskytující erythroidní kolonie pozitivní na JAK2 V617F (cs)
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skos:notation
| - RIV/61989592:15110/07:00004017!RIV08-MZ0-15110___
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(NR9471), Z(MSM6198959205), Z(MSM6198959216)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/61989592:15110/07:00004017
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - Childhood thrombocythemia; EPO; mutation (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Peková, Soňa
- Pospíšilová, Dagmar
- Starý, J.
- Čmejla, Radek
- Divoký, Vladimír
- Horváthová, Monika
- Solná, Renáta
- Veselovská, Jitka
- Čmejlová, Jana
- Běličková, M.
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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is http://linked.open...avai/riv/vysledek
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