0000000000023167

AUTHOR

Fabrice Airaud

showing 3 related works from this author

High HFE mutation incidence in idiopathic erythrocytosis.

2018

0301 basic medicinemedicine.medical_specialtybusiness.industryIncidence (epidemiology)IncidenceHematologyPolycythemiaGastroenterology03 medical and health sciences030104 developmental biology0302 clinical medicine030220 oncology & carcinogenesisInternal medicineMutation (genetic algorithm)MutationmedicineHumansIdiopathic erythrocytosisbusinessHemochromatosis ProteinBritish journal of haematology
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Diagnosis of exon 12‐positive polycythemia vera rescued by NGS

2020

Abstract A JAK2V617F‐negative polycythemia associated with low serum epo needs to be tested for an exon 12 JAK2 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative results.

lcsh:MedicineCase ReportCase Reports030204 cardiovascular system & hematologyDNA sequencing03 medical and health sciencesExon0302 clinical medicinePolycythemia veraExon 12polycythemia verahemic and lymphatic diseasesmedicineerythrocytosisnext generation sequencinglcsh:R5-920business.industryJak2 mutationlcsh:RGeneral Medicinemedicine.diseaseVirologyJAK2030220 oncology & carcinogenesisbusinesslcsh:Medicine (General)Clinical Case Reports
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Low incidence of <i>EPOR</i> mutations in idiopathic erythrocytosis

2020

Erythropoietinbusiness.industryIncidence (epidemiology)Mutation (genetic algorithm)medicineIdiopathic erythrocytosisHematologybusinessBioinformaticsReceptormedicine.drugErythropoietin receptorHaematologica
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