Article
ACTN1-related thrombocytopenia: identification of novel families for phenotypic characterization.
Blood - 29 Jan 2015
Bottega Roberta, Marconi Caterina, Faleschini Michela, Baj Gabriele, Cagioni Claudia, Pecci Alessandro, Pippucci Tommaso, Ramenghi Ugo, Pardini Simonetta, Ngu Loretta, Baronci Carlo, Kunishima Shinji, Balduini Carlo L, Seri Marco, Savoia Anna, Noris Patrizia
Abstract excerpt
Inherited thrombocytopenias (ITs) are a heterogeneous group of syndromic and nonsyndromic diseases caused by mutations affecting different genes. Alterations of ACTN1, the gene encoding for α-actinin 1, have recently been identified in a few families as being responsible for a mild form of IT (ACTN1-related thrombocytopenia; ACTN1-RT). To better characterize this disease, we screened ACTN1 in 128 probands and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.