A de novo splice donor mutation in the thrombopoietin gene causes hereditary thrombocythemia in a Polish family

Haematologica

Volumn 93, Issue 5, 2008, Pages 706-714

  Liu, Kun ^a   Kralovics, Robert ^a,f   Rudzki, Zbigniew ^b   Grabowska, Barbara ^c   Buser, Andreas S ^a   Olcaydu, Damla ^d   Gisslinger, Heinz ^d   Tiedt, Ralph ^a   Frank, Patricia ^a   Okoń, Krzysztof ^b   Van Der Maas, Anthonie P C ^e   Skoda, Radek C ^a  

^a UNIVERSITY HOSPITAL BASEL   (Switzerland)

^b JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^c Rydygier Memorial Hospital   (Poland)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

^e MEDICAL CENTER HAAGLANDEN   (Netherlands)

^f ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

Author keywords

De novo mutation; Founder effect; Hereditary thrombocythemia; Single nucleotide polymorphism analysis

Indexed keywords

ACETYLSALICYLIC ACID; CARBAMAZEPINE; HYDROXYUREA; MESSENGER RNA; THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR; TICLOPIDINE;

ADOLESCENT; ADULT; ARTICLE; BLEEDING; BONE MARROW BIOPSY; CLINICAL ARTICLE; CONTROLLED STUDY; DIZZINESS; DOSE RESPONSE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LOW DRUG DOSE; MALE; MEGAKARYOCYTE; MICROCIRCULATION; PEDIGREE; POLAND; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SYNCOPE; THROMBOCYTE COUNT; THROMBOCYTHEMIA; THROMBOCYTOSIS; VASCULAR DISEASE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; POLAND; POLYMORPHISM, SINGLE NUCLEOTIDE; THROMBOCYTOSIS; THROMBOPOIETIN;

EID: 43449085540     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.11801     Document Type: Article

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