Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
DOI 10.1182/blood-2007-02-075598
Alter BP, Baerlocher GM, Savage SA et al: Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood 2007; 110: 1439-1447 (Pubitemid 47443958)
TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements
Du HY, Pumbo E, Ivanovich J et al: TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009; 113: 309-316
Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA
DOI 10.1016/S0140-6736(03)14797-6
Fogarty PF, Yamaguchi H, Wiestner A et al: Late presentation of dyskeratosis congenita as apparently acquired aplstic anaemia due to mutations in telomerase RNA. Lancet 2003; 362: 1628-1630 (Pubitemid 37443532)
Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation
Vulliamy TJ, Marrone M, Knight S, Walne A, Mason PJ, Dokal I: Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood 2006; 107: 2680-2685
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita
Vulliamy TJ, Knight SW, Mason PJ, Dokal I: Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. Blood Cells Mol Dis 2001; 27: 353-377