Clinical and genetic aspects of Bernard-Soulier syndrome: Searching for genotype/phenotype correlations

Haematologica

Volumn 96, Issue 3, 2011, Pages 417-423

  Savoia, Anna ^a,b   Pastore, Annalisa ^c   de Rocco, Daniela ^b   Civaschi, Elisa ^d   di Stazio, Mariateresa ^a   Bottega, Roberta ^b   Melazzini, Federica ^d   Bozzi, Valeria ^d   Pecci, Alessandro ^d   Magrin, Silvana ^e   Balduini, Carlo L ^d   Noris, Patrizia ^d  

^a UNIVERSITY OF TRIESTE   (Italy)

^b INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^c NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^d FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^e VILLA SOFIA CERVELLO HOSPITAL   (Italy)

Author keywords

Bernard Soulier syndrome; GP1BA; GP1BB and GP9 mutations; Macrothrombocytopenia

Indexed keywords

GLYCOPROTEIN IB; GLYCOPROTEIN IB ALPHA; IMMUNOGLOBULIN; IRON; RECOMBINANT BLOOD CLOTTING FACTOR 7A; STEROID;

ADOLESCENT; ADULT; ARGON PLASMA COAGULATION; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING TENDENCY; BRAIN HEMORRHAGE; CASE STUDY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENDOTAMPONADE; ERYTHROCYTE TRANSFUSION; FEMALE; GASTROINTESTINAL HEMORRHAGE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GP1BA GENE; GP1BB GENE; GP9 GENE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPERITONEUM; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IRON THERAPY; MALE; MENORRHAGIA; PRESCHOOL CHILD; PROTEIN EXPRESSION; RETINA HEMORRHAGE; SCHOOL CHILD; SPLENECTOMY; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTE VOLUME; THROMBOCYTOPENIA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CELL SHAPE; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HEMORRHAGE; HOMOZYGOTE; HUMANS; ITALY; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PLATELET AGGREGATION; PLATELET COUNT; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; POINT MUTATION; POLYMERASE CHAIN REACTION; RISTOCETIN; THROMBOCYTOPENIA; VON WILLEBRAND FACTOR; YOUNG ADULT;

EID: 79952346183     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2010.032631     Document Type: Article

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