Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias

British Journal of Haematology

Volumn 170, Issue 5, 2015, Pages 626-639

  Favier, Remi ^a,b   Raslova, Hana ^a,c,d  

^a INSERM   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c UNIVERSITÉ PARIS SACLAY   (France)

^d INSTITUT GUSTAVE ROUSSY   (France)

Author keywords

Animal models; Diagnostic algorithm; Inherited macrothrombocytopenia; Next generation sequencing

Indexed keywords

ALPHA ACTININ 1; CELL SURFACE PROTEIN; FILAMIN A; GUANOSINE TRIPHOSPHATASE; PROTEIN CDC42; PROTEIN TYROSINE PHOSPHATASE SHP 1; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAC1 PROTEIN; RHOA GUANINE NUCLEOTIDE BINDING PROTEIN; TRANSCRIPTION FACTOR GATA 1;

ACTN1 RELATED DISEASE; ALGORITHM; BERNARD SOULIER DISEASE; BLEEDING TENDENCY; BLOOD SMEAR; CELL SIZE; CLINICAL FEATURE; CONGENITAL BLOOD CLOTTING DISORDER; CYTOGENETICS; DIGEORGE SYNDROME; DISEASE CLASSIFICATION; DNA SEQUENCE; FAMILY HISTORY; FLNA RELATED DISEASE; FLOW CYTOMETRY; GATA1 RELATED DISEASE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GRAY PLATELET SYNDROME; HUMAN; INHERITED MACROTHROMBOCYTOPENIA; ITGA2B ITGB3 RELATED THROMBOCYTOPENIA; JACOBSEN SYNDROME; MOLECULAR CLONING; MOLECULAR DIAGNOSIS; MOLECULAR GENETICS; MYH9 RELATED DISEASE; NEXT GENERATION SEQUENCING; NONHUMAN; PLATELET SIZE; PRIORITY JOURNAL; REVIEW; SITOSTEROLAEMIA; THROMBOCYTE COUNT; THROMBOCYTE STRUCTURE; THROMBOCYTE VOLUME; THROMBOCYTOPENIA; THROMBOCYTOPOIESIS; TUBB1 RELATED THROMBOCYTOPENIA; VELOCARDIOFACIAL SYNDROME; VON WILLEBRAND DISEASE; BLOOD; EXOME; GENETIC DISEASES, INBORN; GENETICS; HEMORRHAGE; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; METABOLISM; THROMBOCYTE;

BLOOD PLATELETS; EXOME; GENETIC DISEASES, INBORN; GENOME, HUMAN; HEMORRHAGE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; THROMBOCYTOPENIA;

EID: 84938997114     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.13478     Document Type: Review

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