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

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 synd...

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Detalhes bibliográficos
Main Authors: Vettore, Silvia, Tezza, Fabiana, Malara, Alessandro, Vianello, Fabrizio, Pecci, Alessandro, Scandellari, Raffaella, Floris, Matteo, Balduini, Alessandra, Fabris, Fabrizio
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2011
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3232274/
https://ncbi.nlm.nih.gov/pubmed/21993687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2010.039008
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