Novel point mutation in a leucine-rich repeat of the GPIbα chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: The N41H variant

Haematologica

Volumn 93, Issue 11, 2008, Pages 1743-1747

  Vettore, Silvia ^a   Scandellari, Raffaella ^a   Moro, Stefano ^a   Lombardi, Anna Maria ^a   Scapin, Margherita ^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

Indexed keywords

GLYCOPROTEIN IB; GLYCOPROTEIN IB ALPHA; HISTIDINE; LEUCINE RICH REPEAT KINASE 2; RISTOCETIN; VON WILLEBRAND FACTOR;

AMINO ACID SUBSTITUTION; ANTIGEN BINDING; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BERNARD SOULIER DISEASE; CONTROLLED STUDY; FLOW CYTOMETRY; HUMAN; HUMAN TISSUE; MOLECULAR MODEL; POINT MUTATION; SEQUENCE ANALYSIS; SYSTEMATIC REVIEW; THROMBOCYTE AGGREGATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BERNARD-SOULIER SYNDROME; BLOOD PLATELETS; CONSENSUS SEQUENCE; CONSERVED SEQUENCE; FAMILY; FEMALE; FLOW CYTOMETRY; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; PLATELET MEMBRANE GLYCOPROTEINS; POINT MUTATION; VARIATION (GENETICS);

EID: 55549095626     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12830     Document Type: Article

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