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Article

Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.

Platelets - 1 Sept 2007

Afrasiabi A, Lecchi A, Artoni A, Karimi M, Ashouri E, Peyvandi F, Mannucci P M

Abstract excerpt

Bernard-Soulier syndrome (BSS) is a rare recessively inherited bleeding disorder caused by the deficiency of the platelet glycoprotein (Gp) complex Ib/IX/V that is the von Willebrand factor receptor on platelets. In patients suffering from BSS platelet adhesion is typically impaired, while platelet aggregation is normal; macrothrombocytopenia is a common feature. In this study three different families from...

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PMID: 17763149
DOI: 10.1080/09537100701191323

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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