Isolated erythrocytosis: Study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Haematologica

Volumn 97, Issue 1, 2012, Pages 123-127

  Albiero, Elena ^a   Ruggeri, Marco ^a   Fortuna, Stefania ^a   Finotto, Silvia ^a   Bernardi, Martina ^a   Madeo, Domenico ^a   Rodeghiero, Francesco ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

Author keywords

Epo; Isolated erythrocytosis; JAK2; Oxygen sensing pathway; Prolyl hydroxylase domain protein 2

Indexed keywords

JANUS KINASE 2; PHD2 PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BONE MARROW BIOPSY; DISEASE CLASSIFICATION; ERYTHROCYTOSIS; GENE; GENE IDENTIFICATION; GERM LINE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYDROXYLATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHD2 GENE; PROTEIN DOMAIN;

ADULT; AMINO ACID SUBSTITUTION; BASE SEQUENCE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; POLYCYTHEMIA; PROCOLLAGEN-PROLINE DIOXYGENASE; PROTEIN CONFORMATION;

EID: 84855215431     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.039545     Document Type: Article

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