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Diagnosis of exon 12-positive polycythemia vera rescued by NGS.
Geay, Antoine; Aral, Bernard; Bourgeois, Valentin; Martin, Pauline; Airaud, Fabrice; Garrec, Céline; Bézieau, Stéphane; Gardie, Betty; Girodon, François.
Afiliação
  • Geay A; Service d'Hématologie Biologique Pôle Biologie CHU de Dijon Dijon France.
  • Aral B; Laboratoire de génétique chromosomique et moléculaire Pôle Biologie CHU de Dijon Dijon France.
  • Bourgeois V; Service d'Hématologie Biologique Pôle Biologie CHU de Dijon Dijon France.
  • Martin P; Service d'Hématologie Biologique Pôle Biologie CHU de Dijon Dijon France.
  • Airaud F; Service de Génétique Médicale CHU de Nantes Nantes France.
  • Garrec C; Service de Génétique Médicale CHU de Nantes Nantes France.
  • Bézieau S; Service de Génétique Médicale CHU de Nantes Nantes France.
  • Gardie B; Ecole Pratique des Hautes Etudes EPHE PSL Research University Nantes France.
  • Girodon F; L'institut du Thorax INSERM CNRS UNIV Nantes Nantes France.
Clin Case Rep ; 8(5): 790-792, 2020 May.
Article em En | MEDLINE | ID: mdl-32477518
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies Idioma: En Ano de publicação: 2020 Tipo de documento: Article