Article
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
American journal of human genetics - 7 Jan 2011
Pippucci Tommaso, Savoia Anna, Perrotta Silverio, Pujol-Moix Núria, Noris Patrizia, Castegnaro Giovanni, Pecci Alessandro, Gnan Chiara, Punzo Francesca, Marconi Caterina, Gherardi Samuele, Loffredo Giuseppe, De Rocco Daniela, Scianguetta Saverio, Barozzi Serena, Magini Pamela, Bozzi Valeria, Dezzani Luca, Di Stazio Mariateresa, Ferraro Marcella, Perini Giovanni, Seri Marco, Balduini Carlo L
Abstract excerpt
THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that ANKRD26, another gene within the THC2 locus, and neither MASTL nor ACBD5, is mutated in eight unrelated families. ANKRD26 was also found to be mutated in the family previously reported to have an ACBD5 mutation. We identified six different ANKRD26 mutations,...
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