A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbα gene: Lack of GPIbα but absence of bleeding

Platelets

Volumn 19, Issue 5, 2008, Pages 388-391

  Vettore, Silvia ^a   Scandellari, Raffaella ^a   Scapin, Margherita ^a   Lombardi, Anna Maria ^a   Duner, Elena ^a   Randi, Maria Luigia ^a   Fabris, Fabrizio ^a,b  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

^b Department of Medical and Surgical Sciences ^*  (Italy)

Author keywords

Bernard Soulier; Congenital thrombocytopenia; Glycoprotein Ib alpha

Indexed keywords

AMINO ACID; GLYCOPROTEIN IB ALPHA; NUCLEIC ACID BASE;

ADULT; ARTICLE; BERNARD SOULIER DISEASE; BLEEDING; BLOOD SMEAR; CASE REPORT; CONSANGUINEOUS MARRIAGE; DNA DETERMINATION; FATHER; FLOW CYTOMETRY; GENE DELETION; GENE EXPRESSION; GRANDPARENT; HOMOZYGOSITY; HUMAN; MALE; MOTHER; PRIORITY JOURNAL; STOP CODON; THROMBOCYTE AGGLUTINATION; THROMBOCYTE COUNT; THROMBOCYTOPENIA; WESTERN BLOTTING;

ADULT; BERNARD-SOULIER SYNDROME; CODON, NONSENSE; CONSANGUINITY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; PHENOTYPE; PLATELET AGGREGATION; SEQUENCE DELETION; THROMBOCYTOPENIA;

EID: 51849126451     PISSN: 09537104     EISSN: 13691635     Source Type: Journal    
DOI: 10.1080/09537100801949976     Document Type: Article

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