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Article

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 - 1 Apr 1999

Koskela S, Javela K, Jouppila J, Juvonen E, Nyblom O, Partanen J, Kekomäki R

Abstract excerpt

Bernard-Soulier syndrome (BSS), a rare bleeding disorder with macrothrombocytopenia, is caused by a defect of the platelet glycoprotein (GP) Ib/IX/V complex. Here we report a variant form of BSS in eleven patients of five unrelated families who originate from a particular area of Finland. The differential diagnosis from idiopathic thrombocytopenic purpura was difficult. Bleeding symptoms were epistaxis and...

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Identifiers

PMID: 10227459
DOI: 10.1111/j.1600-0609.1999.tb01755.x

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