Marrone, A., Sokhal, P., Walne, A., Beswick, R., Kirwan, M., Killick, S., Williams, M., Marsh, J., Vulliamy, T. and Dokal, I. (2007) “Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations”, Haematologica. Pavia, Italy, 92(8), pp. 1013-1020. doi: 10.3324/haematol.11407.