Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3

Thrombosis and Haemostasis

Volumn 103, Issue 5, 2010, Pages 1053-1064

  Jurk, Kerstin ^a   Schulz, Ansgar S ^b   Kehrel, Beate E ^a   Räpple, Daniel ^c   Schulze, Harald ^d   Möbest, Dieter ^c   Friedrich, Wilhelm W ^b   Omran, Heymut ^a   Deak, Erika ^e   Henschler, Reinhard ^a   Scheele, Jürgen S ^c   Zieger, Barbara ^c  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY HOSPITAL ULM   (Germany)

^c UNIVERSITY OF FREIBURG   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^e GOETHE UNIVERSITY MEDICAL SCHOOL   (Germany)

Author keywords

Integrin; Kindlin 3; Leukocyte adhesion deficiency; Platelets

Indexed keywords

COLLAGEN; FIBRINOGEN; FOCAL ADHESION KINASE; INTEGRIN; INTEGRIN ALPHA2BETA3; PROTEIN KINDLIN 3; PROTEINASE ACTIVATED RECEPTOR 1; PROTEINASE ACTIVATED RECEPTOR 4; RAP1 PROTEIN; THROMBIN RECEPTOR; UNCLASSIFIED DRUG; VASCULAR CELL ADHESION MOLECULE 1; FIBRINOGEN RECEPTOR; GLYCOPROTEIN RECEPTOR GPIB-IX; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; MEMBRANE PROTEIN; MIG2B PROTEIN, HUMAN; RAP1GAP PROTEIN, HUMAN; THROMBIN; TUMOR PROTEIN;

ARTICLE; BLOOD DONOR; CASE REPORT; CELL STIMULATION; CHILD; CODON; DNA SEQUENCE; FERMT3 GENE; GENE; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HOMOZYGOSITY; HUMAN; LEUKOCYTE ADHESION DEFICIENCY; LEUKOCYTE ADHESION DEFICIENCY III; MALE; PERIPHERAL BLOOD MONONUCLEAR CELL; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; SIGNAL TRANSDUCTION; THROMBOCYTE ADHESION; THROMBOCYTE DYSFUNCTION; THROMBOCYTE FUNCTION; BLEEDING; BLOOD; CELL ADHESION; CELL CULTURE; CHIMERA; DEGRANULATION; GENETICS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; METABOLISM; MONONUCLEAR CELL; MUTATION; PATHOLOGY; THROMBOCYTE ACTIVATION;

CELL ADHESION; CELL DEGRANULATION; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CHIMERISM; COLLAGEN; GTPASE-ACTIVATING PROTEINS; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMORRHAGE; HUMANS; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; LEUKOCYTES, MONONUCLEAR; MALE; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; PLATELET ACTIVATION; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; THROMBIN; VASCULAR CELL ADHESION MOLECULE-1;

EID: 77952037976     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH09-10-0689     Document Type: Article

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