Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation)

BACKGROUND: Bernard-Soulier syndrome is a very rare form of inherited thrombocytopenia that derives from mutations in GPIbα, GPIbβ, or GPIX and is typically inherited as a recessive disease. However, some years ago it was shown that the monoallelic c.515C>T transition in the GPIBA gene (Bolzano m...

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Detalhes bibliográficos
Main Authors: Noris, Patrizia, Perrotta, Silverio, Bottega, Roberta, Pecci, Alessandro, Melazzini, Federica, Civaschi, Elisa, Russo, Sabina, Magrin, Silvana, Loffredo, Giuseppe, Di Salvo, Veronica, Russo, Giovanna, Casale, Maddalena, De Rocco, Daniela, Grignani, Claudio, Cattaneo, Marco, Baronci, Carlo, Dragani, Alfredo, Albano, Veronica, Jankovic, Momcilo, Scianguetta, Saverio, Savoia, Anna, Balduini, Carlo L.
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2012
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248934/
https://ncbi.nlm.nih.gov/pubmed/21933849
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2011.050682
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