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Article

A A386G biallelic GPIbα gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis.

Haematologica - 1 Dec 2011

Vettore Silvia, Tezza Fabiana, Malara Alessandro, Vianello Fabrizio, Pecci Alessandro, Scandellari Raffaella, Floris Matteo, Balduini Alessandra, Fabris Fabrizio

Abstract excerpt

Platelet glycoprotein GPIbα mutations are the basic defect behind Bernard-Soulier syndrome, a rare inherited macrothrombocytopenia characterized by anomalies of the GPIbα, GPIbβ and GPIX subunits of von Willebrand factor receptor. A 32-year old man was investigated for suspected Bernard-Soulier syndrome. Ristocetin induced agglutination was absent. Flow cytometry and Western blot analysis showed a severe...

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Identifiers

PMID: 21993687
DOI: 10.3324/haematol.2010.039008
PMCID: PMC3232274

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