Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families

European Journal of Haematology

Volumn 62, Issue 4, 1999, Pages 256-264

  Koskela, Satu ^a   Javela, Kaija ^a   Jouppila, Jussi ^b   Juvonen, Eeva ^c   Nyblom, Olle ^d   Partanen, Jukka ^a   Kekomäki, Riitta ^a  

^a FINNISH RED CROSS BLOOD SERVICE   (Finland)

^b SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

Bernard Soulier syndrome; Finnish disease heritage; Glycoprotein Ib IX V; Idiopathic thrombocytopenic purpura; Platelet

Indexed keywords

ASPARAGINE; GLYCOPROTEIN; GLYCOPROTEIN IB; PLATELET GLYCOPROTEIN IX; SERINE; UNCLASSIFIED DRUG;

ARTICLE; BERNARD SOULIER DISEASE; BLEEDING DISORDER; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; EPISTAXIS; FINLAND; GENE MUTATION; GENETIC VARIABILITY; HEMATOMA; HUMAN; IDIOPATHIC THROMBOCYTOPENIC PURPURA; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; THROMBOCYTE COUNT; THROMBOCYTOPENIA;

EID: 0032939487     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0609.1999.tb01755.x     Document Type: Article

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