Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency

The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. The genetic defect responsible for gray platelet syndrome was recently identified in biallelic mutations in the NBEAL2 gene. We studied 11 consec...

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Detalhes bibliográficos
Main Authors: Bottega, Roberta, Pecci, Alessandro, De Candia, Erica, Pujol-Moix, Nuria, Heller, Paula G., Noris, Patrizia, De Rocco, Daniela, Podda, Gian Marco, Glembotsky, Ana C., Cattaneo, Marco, Balduini, Carlo L., Savoia, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2013
Assuntos:
Original Articles and Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3669441/
https://ncbi.nlm.nih.gov/pubmed/23100277
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2012.075861
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