Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and develop-mental delay

Thrombosis and Haemostasis

Volumn 106, Issue 3, 2011, Pages 475-483

  Bartsch, Ingrid ^a   Sandrock, Kirstin ^a   Lanza, Francois ^b   Nurden, Paquita ^c   Hainmann, Ina ^a   Pavlova, Anna ^d   Greinacher, Andreas ^e   Tacke, Uta ^a   Barth, Michael ^a   Busse, Anja ^a   Oldenburg, Johannes ^d   Bommer, Martin ^f   Strahm, Brigitte ^a   Superti Furga, Andrea ^a   Zieger, Barbara ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c HAUT LÉVÊQUE HOSPITAL   (France)

^d UNIVERSITY HOSPITAL BONN   (Germany)

^e UNIVERSITY OF GREIFSWALD   (Germany)

^f UNIVERSITY HOSPITAL ULM   (Germany)

Author keywords

Aquired; Inherited acquired platelet disorders; Paediatric haemostasis; Platelet glycoproteins; Platelet pathology inherited

Indexed keywords

GLYCOPROTEIN IB; GLYCROPROTEIN 1B BETA; PROTEIN SEPT5; SEPTIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING DISORDER; BONE MARROW TRANSPLANTATION; CASE REPORT; CELL GRANULE; CHILD; CONTROLLED STUDY; CORTICAL DYSPLASIA; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENGRAFTMENT; FLOW CYTOMETRY; GENE; GENE DELETION; GENETIC ASSOCIATION; GP1BB GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MICROGYRIA; PLATELET SECRETION DEFECT; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEPT5 GENE; SOUTHERN BLOTTING; THROMBOCYTE DISORDER; TRANSMISSION ELECTRON MICROSCOPY;

BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; BONE MARROW TRANSPLANTATION; CELL CYCLE PROTEINS; CHILD, PRESCHOOL; DISEASE-FREE SURVIVAL; EXOCYTOSIS; FACTOR IX; HOMOZYGOTE; HUMANS; IMMUNE TOLERANCE; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; MICROSCOPY, ELECTRON, TRANSMISSION; NEURONS; SECRETORY PATHWAY; SECRETORY VESICLES; SEPTINS; SEQUENCE DELETION;

EID: 80052305895     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-05-0305     Document Type: Article

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