Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia

British Journal of Haematology

Volumn 141, Issue 6, 2008, Pages 808-813

  Tijssen, Marloes R ^a,b   Di Summa, Franca ^a,b   Van Den Oudenrijn, Sonja ^a,b   Zwaginga, Jaap Jan ^a,b,c   Van Der Schoot, C Ellen ^a,b   Voermans, Carlijn ^a,b   De Haas, Masja ^a,b  

^a SANQUIN RESEARCH   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Mpl; Thrombocytopenia; Thrombopoietin

Indexed keywords

JANUS KINASE; MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3 KINASE; THROMBOPOIETIN RECEPTOR;

ARTICLE; CASE REPORT; CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA; CONTROLLED STUDY; ENZYME ACTIVATION; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MPL GENE; PRIORITY JOURNAL; PROTEIN BINDING; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA; WILD TYPE;

AMINO ACID SUBSTITUTION; CHILD, PRESCHOOL; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; HUMANS; K562 CELLS; MEGAKARYOCYTES; MUTATION, MISSENSE; PHOSPHORYLATION; RECEPTORS, THROMBOPOIETIN; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SIGNAL TRANSDUCTION; THROMBOCYTOPENIA; THROMBOPOIETIN;

EID: 44249104013     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07139.x     Document Type: Article

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