Analysis of the oxygen sensing pathway genes in familial chronic myeloproliferative neoplasms and identification of a novel EGLN1 germ-line mutation

British Journal of Haematology

Volumn 153, Issue 3, 2011, Pages 405-408

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

^a SAN BORTOLO HOSPITAL   (Italy)

Author keywords

Chronic myeloproliferative neoplasms; EGLN1; Genetic lesion; JAK2; Oxygen sensing pathway

Indexed keywords

EGL NINE HOMOLOG 1 PROTEIN; ERYTHROPOIETIN; HEMOGLOBIN; HYDROXYUREA; OXYGENASE; UNCLASSIFIED DRUG; WARFARIN;

ADULT; AGED; AMINO ACID SUBSTITUTION; BONE MARROW BIOPSY; CELL HYPERPLASIA; CLINICAL ARTICLE; EGLN1 GENE; ERYTHROCYTOSIS; FAMILIAL CANCER; GENE; GENE MUTATION; GENE SEQUENCE; GERM LINE; HEART ATRIUM FIBRILLATION; HEMATOCRIT; HOMOZYGOTE; HUMAN; HUMAN CELL; JAK2 GENE; LETTER; LEUKOCYTOSIS; MALE; MISSENSE MUTATION; MYELOPROLIFERATIVE DISORDER; MYELOPROLIFERATIVE NEOPLASM; NUCLEOTIDE SEQUENCE; OXYGEN SENSING; PHLEBOTOMY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SPLENOMEGALY; THROMBOCYTOSIS; THROMBOTIC THROMBOCYTOPENIC PURPURA;

ADULT; AGED; CHRONIC DISEASE; GERM-LINE MUTATION; HUMANS; MALE; MYELOPROLIFERATIVE DISORDERS; OXYGEN; POLYCYTHEMIA VERA; PROCOLLAGEN-PROLINE DIOXYGENASE; SIGNAL TRANSDUCTION;

EID: 79954420058     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2010.08551.x     Document Type: Letter

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