A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis

Blood

Volumn 123, Issue 7, 2014, Pages 1059-1068

  Etheridge, S Leah ^a   Cosgrove, Megan E ^a   Sangkhae, Veena ^a   Corbo, Lana M ^a   Roh, Michelle E ^a   Seeliger, Markus A ^a   Chan, Edward L ^a   Hitchcock, Ian S ^a  

^a STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BCR ABL PROTEIN; COMPLEMENTARY DNA; CYCLIN DEPENDENT KINASE INHIBITOR 1B; DIMETHYL SULFOXIDE; FERRITIN; HEMOGLOBIN; JANUS KINASE 2; RUXOLITINIB; SUPPRESSOR OF CYTOKINE SIGNALING 3;

ADULT; ALLELE; APOPTOSIS; ARTICLE; BLOOD SMEAR; BONE MARROW CELL; CASE REPORT; CELL GROWTH; CELL PROLIFERATION; CELL VIABILITY; CHILD; CLONAL VARIATION; CONTROLLED STUDY; DRUG SENSITIVITY; ENZYME ACTIVITY; ERYTHROCYTE SEDIMENTATION RATE; FAMILIAL DISEASE; FAMILIAL ESSENTIAL THROMBOCYTOSIS; FEMALE; FLOW CYTOMETRY; GENE EXPRESSION; GENE MUTATION; HEMATOPOIETIC CELL; HUMAN; HUMAN CELL; IC 50; INTRACELLULAR SIGNALING; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SOMATIC MUTATION; THROMBOCYTE COUNT; THROMBOCYTHEMIA; THROMBOCYTOSIS; WESTERN BLOTTING;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARGININE; BASE SEQUENCE; CHILD; FEMALE; GERM-LINE MUTATION; GLUTAMIC ACID; HUMANS; JANUS KINASE 2; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; PEDIGREE; THROMBOCYTHEMIA, ESSENTIAL;

EID: 84897903692     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2012-12-473777     Document Type: Article

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