Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects

Blood

Volumn 122, Issue 25, 2013, Pages 4090-4093

  Stockley, Jacqueline ^a   Morgan, Neil V ^b   Bem, Danai ^b   Lowe, Gillian C ^b   Lordkipanidzé, Marie ^b   Dawood, Ban ^b   Simpson, Michael A ^c   Macfarlane, Kirsty ^b   Horner, Kevin ^d   Leo, Vincenzo C ^a   Talks, Katherine ^e   Motwani, Jayashree ^f   Wilde, Jonathan T ^g   Collins, Peter W ^h   Makris, Michael ^a   Watson, Steve P ^b   Daly, Martina E ^a  

^a UNIVERSITY OF SHEFFIELD   (United Kingdom)

^b UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^c GUY S HOSPITAL   (United Kingdom)

^d ROYAL HALLAMSHIRE HOSPITAL   (United Kingdom)

^e ROYAL VICTORIA INFIRMARY   (United Kingdom)

^f BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^g QUEEN ELIZABETH HOSPITAL   (United Kingdom)

^h CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; COLLAGEN; PROTEINASE ACTIVATED RECEPTOR 1; TRANSCRIPTION FACTOR FLI 1; TRANSCRIPTION FACTOR RUNX1;

ALOPECIA; ARTICLE; BLEEDING; DNA BINDING; DNA SPLICING; ECZEMA; GENE DELETION; GENE MUTATION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MEGAKARYOPOIESIS; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEAR LOCALIZATION SIGNAL; PHENOTYPE; PLATELET DENSE GRANULE SECRETION DEFECT; PRIORITY JOURNAL; PSORIASIS; THROMBOCYTE AGGREGATION; THROMBOCYTE ANOMALY; THROMBOCYTE COUNT; THROMBOCYTE RELEASE REACTION; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS;

EID: 84891142278     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-06-506873     Document Type: Article

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