Inherited disorders of platelet function: Selected updates

Journal of Thrombosis and Haemostasis

Volumn 13, Issue S1, 2015, Pages S2-S9

  Nurden, A T ^a   Nurden, P ^a  

^a Ctr Geriatrie Ctr Hosp Univ B   (France)

Author keywords

Blood platelets; Genetic variation; Glanzmann thrombasthenia; Hemorrhage; High throughput nucleotide sequencing; Rare diseases

Indexed keywords

ALPHA GRANULE; BETA3 INTEGRIN; CALCIUM AND DIACYLGLYCEROL REGULATED GUANINE NUCLEOTIDE EXCHANGE FACTOR; CELL PROTEIN; CYTOSKELETON PROTEIN; GUANINE NUCLEOTIDE EXCHANGE FACTOR; KINDLIN 3; MEMBRANE PROTEIN; PADGEM PROTEIN; THROMBOXANE A2 RECEPTOR; TRANSCRIPTION FACTOR GATA 1; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN; GENETIC MARKER;

AMINO ACID SUBSTITUTION; ARTHROGRYPOSIS; ARTHROGRYPOSIS RENAL DYSFUNCTION CHOLESTASIS SYNDROME; BLOOD CLOTTING; CHOLESTASIS; DEFECT OF ALPHA GRANULE BIOGENESIS; DISEASE SEVERITY; FERMT3 GENE; GAIN OF FUNCTION MUTATION; GATA1 GENE; GENE; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; GFI1B GENE; GLANZMANN DISEASE; GRAY PLATELET SYNDROME; HEMOSTASIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INHERITED PLATELET DISORDER; ITGA2B GENE; ITGB3 GENE; KIDNEY DISEASE; MEGAKARYOCYTE; MUTATIONAL ANALYSIS; NBEAL2 GENE; NEXT GENERATION SEQUENCING; NONHUMAN; P2RY12 GENE; PHENOTYPE; PRIORITY JOURNAL; QUEBEC PLATELET DISORDER; RASGRP2 GENE; REVIEW; RUNX1 GENE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE AGGREGATION; THROMBOCYTE DISORDER; THROMBOCYTOPENIA; VPS33B GENE; WAS GENE; WIPF1 GENE; ANIMAL; BLEEDING; BLOOD; BLOOD PLATELET DISORDERS; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PROCEDURES; RISK FACTOR; THROMBOCYTE;

ANIMALS; BLOOD PLATELET DISORDERS; BLOOD PLATELETS; DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HEMORRHAGE; HEMOSTASIS; HEREDITY; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; PHENOTYPE; RISK FACTORS; SIGNAL TRANSDUCTION;

EID: 84931430100     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/jth.12898     Document Type: Review

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