title: A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.
authors.affiliation: CHU Brest, Laboratoire d'Hématologie, Brest, France.|Université de Brest, UFR Médecine, Brest, France.|INSERM U1078, Brest, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Chauveau
authors.affiliation: CHU Brest, Laboratoire d'Hématologie, Brest, France.|INSERM U1078, Brest, France.
authors.forename: Damien
authors.initials: D
authors.lastname: Luque Paz
authors.affiliation: CHU Brest, Laboratoire d'Hématologie, Brest, France.|Plateforme INCa de Génétique Hospitalière des Cancers de Brest, Brest, France.
authors.forename: Lydie
authors.initials: L
authors.lastname: Lecucq
authors.affiliation: Université de Brest, UFR Médecine, Brest, France.|INSERM U1078, Brest, France.|CHU Brest, Laboratoire de Génétique, Brest, France.
authors.forename: Gérald
authors.initials: G
authors.lastname: Le Gac
authors.affiliation: Université de Brest, UFR Médecine, Brest, France.|INSERM U1078, Brest, France.|CHU Brest, Laboratoire de Génétique, Brest, France.
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Maréchal
authors.affiliation: Université de Brest, UFR Médecine, Brest, France.|INSERM U1078, Brest, France.|CHU Brest, Laboratoire de Génétique, Brest, France.
authors.forename: Paul
authors.initials: P
authors.lastname: Gueguen
authors.affiliation: Université de Brest, UFR Médecine, Brest, France.|CHU Brest, Service d'Hématologie, Institut de Cancérologie et d'Hématologie, Brest, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.affiliation: CHU Brest, Laboratoire d'Hématologie, Brest, France. valerie.ugo@chu-brest.fr.|Université de Brest, UFR Médecine, Brest, France. valerie.ugo@chu-brest.fr.|INSERM U1078, Brest, France. valerie.ugo@chu-brest.fr.
authors.forename: Valérie
authors.initials: V
authors.lastname: Ugo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D011086:Polycythemia / Q000151:congenital* / Q000235:genetics; D017467:Receptors, Erythropoietin / Q000235:genetics*; D055815:Young Adult
chemical_list: D017467:Receptors, Erythropoietin; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: erythrocytosis; erythropoietin receptor mutation; myeloproliferative disorder; polycythaemia