Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.

@article{Noris2011MutationsIA,
  title={Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families.},
  author={P. Noris and S. Perrotta and M. Seri and A. Pecci and C. Gnan and G. Loffredo and N. Pujol-Moix and M. Zecca and F. Scognamiglio and D. De Rocco and F. Punzo and F. Melazzini and S. Scianguetta and M. Casale and C. Marconi and T. Pippucci and G. Amendola and L. Notarangelo and C. Klersy and E. Civaschi and C. Balduini and A. Savoia},
  journal={Blood},
  year={2011},
  volume={117 24},
  pages={
          6673-80
        }
}
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 has to be considered one of the less rare forms of inherited thrombocytopenia… Expand
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