Inherited macrothrombocytopenias

Seminars in Thrombosis and Hemostasis

Volumn 40, Issue 7, 2014, Pages 774-784

  Rabbolini, David John ^a,b   Morel Kopp, Marie Christine ^a,b   Stevenson, William ^a,b   Ward, Christopher Morice ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

Author keywords

GFI1B; inherited macrothrombo cytopenia; next generation sequencing; transcriptional factors; whole exome sequencing

Indexed keywords

ABC TRANSPORTER G5; ABC TRANSPORTER G8; ALPHA ACTININ 1; BETA TUBULIN; FILAMIN A; MYOSIN HEAVY CHAIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FLI 1; TRANSCRIPTION FACTOR GATA 1; VON WILLEBRAND FACTOR;

ALPHA ACTININ RELATED THROMBOCYTOPENIA; ARTHROGRYPOSIS RENAL DYSFUNCTION AND CHOLESTASIS SYNDROME; ARTICLE; BERNARD SOULIER DISEASE; BETA1 TUBULIN RELATED THROMBOCYTOPENIA; CELL GRANULE; CLINICAL FEATURE; CYTOSKELETON; DISEASE CLASSIFICATION; GENE MUTATION; GENETIC SCREENING; GRAY PLATELET SYNDROME; HUMAN; INHERITED MACROTHROMBOCYTOPENIA; JACOBSEN SYNDROME; LABORATORY DIAGNOSIS; MEGAKARYOCYTE; NEXT GENERATION SEQUENCING; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SITOSTEROLEMIA; THROMBOCYTE; THROMBOCYTE DISORDER; THROMBOCYTOPENIA; VELOCARDIOFACIAL SYNDROME; VON WILLEBRAND DISEASE; DIFFERENTIAL DIAGNOSIS; GENETIC DISEASES, INBORN; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC;

DIAGNOSIS, DIFFERENTIAL; GENETIC DISEASES, INBORN; HUMANS; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; THROMBOCYTOPENIA;

EID: 84928553182     PISSN: 00946176     EISSN: 10989064     Source Type: Journal    
DOI: 10.1055/s-0034-1387922     Document Type: Article

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