Bernard-Soulier syndrome: Novel nonsense mutation in GPIbβ gene affecting GPIb-IX complex expression

Annals of Hematology

Volumn 88, Issue 5, 2009, Pages 465-472

  Hadjkacem, Basma ^a   Elleuch, Henda ^b   Gargouri, Jalel ^b   Gargouri, Ali ^a  

^a CENTRE DE BIOTECHNOLOGIE DE SFAX   (Tunisia)

^b Centre Regional de Transfusion Sanguine de Sfax   (Tunisia)

Author keywords

Bernard Soulier syndrome; Giant platelets; GPIb mutation; GPIb IX V complex

Indexed keywords

GLYCOPROTEIN; GLYCOPROTEIN IB ALPHA; GLYCOPROTEIN IB BETA; PLATELET GLYCOPROTEIN IB IX V COMPLEX; SERINE; THROMBIN RECEPTOR; UNCLASSIFIED DRUG; GLYCOPROTEIN RECEPTOR GPIB IX; GLYCOPROTEIN RECEPTOR GPIB-IX;

AMINO ACID SUBSTITUTION; ARTICLE; BERNARD SOULIER DISEASE; CASE REPORT; CHILD; CONFOCAL MICROSCOPY; CONTROLLED STUDY; FAMILY STUDY; FLOW CYTOMETRY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; SCHOOL CHILD; THROMBOCYTE AGGREGATION; THROMBOCYTE COUNT; WESTERN BLOTTING; CHEMISTRY; FAMILY HEALTH; GENE EXPRESSION; GENETICS; GENOTYPE; STOP CODON; THROMBOCYTE; TUNISIA;

BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CODON, NONSENSE; FAMILY HEALTH; GENE EXPRESSION; GENOTYPE; HUMANS; PLATELET GLYCOPROTEIN GPIB-IX COMPLEX; TUNISIA;

EID: 63649149463     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-008-0611-8     Document Type: Article

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