Article
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.
Blood - 16 Jun 2011
Noris Patrizia, Perrotta Silverio, Seri Marco, Pecci Alessandro, Gnan Chiara, Loffredo Giuseppe, Pujol-Moix Nuria, Zecca Marco, Scognamiglio Francesca, De Rocco Daniela, Punzo Francesca, Melazzini Federica, Scianguetta Saverio, Casale Maddalena, Marconi Caterina, Pippucci Tommaso, Amendola Giovanni, Notarangelo Lucia D, Klersy Catherine, Civaschi Elisa, Balduini Carlo L, Savoia Anna
Abstract excerpt
Until recently, thrombocytopenia 2 (THC2) was considered an exceedingly rare form of autosomal dominant thrombocytopenia and only 2 families were known. However, we recently identified mutations in the 5'-untranslated region of the ANKRD26 gene in 9 THC2 families. Here we report on 12 additional pedigrees with ANKRD26 mutations, 6 of which are new. Because THC2 affected 21 of the 210 families in our database, it...
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