Article
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency.
Haematologica - 1 Jun 2013
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
Abstract excerpt
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 consecutive families with inherited macrothrombocytopenia of unknown origin and α-granule deficiency. All of them...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.