Congenital erythrocytosis associated with gain-of-function HIF2A gene mutations and erythropoietin levels in the normal range

Haematologica

Volumn 98, Issue 10, 2013, Pages 1624-1632

  Perrotta, Silverio ^a   Stiehl, Daniel P ^b   Punzo, Francesca ^a   Scianguetta, Saverio ^a   Borriello, Adriana ^a   Bencivenga, Debora ^a   Casale, Maddalena ^a   Nobili, Bruno ^a   Fasoli, Silvia ^c   Balduzzi, Adriana ^d   Cro, Lilla ^e   Nytko, Katarzyna J ^b   Wenger, Rolans H ^b   Ragione, Fulvio Della ^a  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Ospedale Mantova   (Italy)

^d UNIVERSITY OF MILANO BICOCCA   (Italy)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOMEDULLIN; ERYTHROPOIETIN; HYPOXIA INDUCIBLE FACTOR 2ALPHA; PROCOLLAGEN PROLINE 2 OXOGLUTARATE 4 DIOXYGENASE; TRANSFERRIN RECEPTOR; VASCULOTROPIN;

ADOLESCENT; ADULT; ARTICLE; CONTROLLED STUDY; ENZYME LINKED IMMUNOSORBENT ASSAY; ERYTHROCYTOSIS; ERYTHROID PRECURSOR CELL; GAIN OF FUNCTION MUTATION; GENE; GENE EXPRESSION; GENE SEQUENCE; HUMAN; HUMAN CELL; HYDROXYLATION; HYPOXIA INDUCIBLE FACTOR 2ALPHA GENE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; ONCOGENE C MYB; PHENOTYPE; POLYCYTHEMIA; PROTEIN METABOLISM; PROTEIN STABILITY; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; BIOLOGICAL MARKERS; COHORT STUDIES; ERYTHROPOIETIN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; POLYCYTHEMIA; REFERENCE VALUES;

EID: 84884953420     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2013.088369     Document Type: Article

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