Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects

Annals of Hematology

Volumn 91, Issue 7, 2012, Pages 1129-1133

  Stockklausner, Clemens ^a   Echner, Nicole ^a   Klotter, Anne Christine ^a   Hegenbart, Ute ^a   Dreger, Peter ^a   Kulozik, Andreas E ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Familiar thrombocytosis; FT; HT; Limb defects; Multiple myeloma; THPO

Indexed keywords

FLUDARABINE; THROMBOPOIETIN;

5' UNTRANSLATED REGION; ALLOGENEIC STEM CELL TRANSPLANTATION; ANGIOGENESIS; ARTICLE; AUTOLOGOUS STEM CELL TRANSPLANTATION; BLOOD CELL COUNT; BLOOD SAMPLING; BONE DEVELOPMENT; CONGENITAL DISORDER; CONGENITAL LIMB DEFECT; DISTAL PHALANX; GAIN OF FUNCTION MUTATION; GENETIC DISORDER; GENOTYPE; HEMANGIOBLAST; HEREDITARY THROMBOCYTHEMIA; HETEROZYGOSITY; HUMAN; INTRON; LIMB DEFECT; METACARPAL BONE; MULTIPLE MYELOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RADIATION DOSE; SPLENOMEGALY; SPLICEOSOME; THROMBOCYTE COUNT; THROMBOCYTHEMIA; THROMBOCYTOPOIESIS; THROMBOSIS; WHOLE BODY RADIATION;

ADULT; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MIDDLE AGED; MULTIPLE MYELOMA; MUTATION; PEDIGREE; THROMBOCYTOSIS; THROMBOPOIETIN;

EID: 84862756472     PISSN: 09395555     EISSN: 14320584     Source Type: Journal    
DOI: 10.1007/s00277-012-1453-y     Document Type: Article

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