Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations

BACKGROUND: Bernard-Soulier syndrome is a severe bleeding disease due to a defect of GPIb/IX/V, a platelet complex that binds the von Willebrand factor. Due to the rarity of the disease, there are reports only on a few cases compromising any attempt to establish correlations between genotype and phe...

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Main Authors: Savoia, Anna, Pastore, Annalisa, De Rocco, Daniela, Civaschi, Elisa, Di Stazio, Mariateresa, Bottega, Roberta, Melazzini, Federica, Bozzi, Valeria, Pecci, Alessandro, Magrin, Silvana, Balduini, Carlo L., Noris, Patrizia
Format: Artigo
Language:Inglês
Published: Ferrata Storti Foundation 2011
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Original Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3046273/
https://ncbi.nlm.nih.gov/pubmed/21173099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.032631
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