Inherited thrombocytopenias: the beat goes on.
A Koneti RaoNatthapol SongdejPublished in: Blood (2015)
In this issue of Blood, Bottega et al document mutations in ACTN1, which encodes the cytoskeletal protein α-actinin 1, in 10 of 239 consecutive probands with an inherited thrombocytopenia--making ACTN1 an important cause of familial thrombocytopenia.