Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.
Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL.
Pippucci T, et al. Among authors: seri m.
Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.
Am J Hum Genet. 2011.
PMID: 21211618
Free PMC article.