A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Haematologica

Volumn 93, Issue 7, 2008, Pages 1072-1075

  Al Sheikh, Maha ^a,b   Mazurier, Elodie ^a   Gardie, Betty ^e   Casadevall, Nicole ^d   Galactéros, Frédéric ^a,c   Goossens, Michel ^a,b   Wajcman, Henri ^a,b   Préhu, Claude ^a,b   Ugo, Valérie ^f,g  

^a U841   (France)

^b HENRI MONDOR HOSPITAL   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HÔTEL DIEU   (France)

^e INSTITUT GUSTAVE ROUSSY   (France)

^f BREST UNIVERSITY HOSPITAL   (France)

^g CHU MORVAN   (France)

Author keywords

Erythrocytosis; Erythropoietin receptor; JAK2; Polycythemia; Prolyl hydroxylase domain protein 2; Von Hippel Lindau

Indexed keywords

ERYTHROPOIETIN RECEPTOR; JANUS KINASE 2; PHENYLALANINE; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE; VALINE; VON HIPPEL LINDAU PROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DNA SEQUENCE; ERYTHROCYTOSIS; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE MUTATION; HETEROZYGOTE; HUMAN; MALE; POLYMERASE CHAIN REACTION; SCREENING; STOP CODON;

ADOLESCENT; ADULT; AGED; CHILD; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYCYTHEMIA; PROCOLLAGEN-PROLINE DIOXYGENASE; RECEPTORS, ERYTHROPOIETIN; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN;

EID: 46849114121     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12260     Document Type: Article

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