Clinical utility gene card for: Dyskeratosis congenita
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201190.pdf
Reference9 articles.
1. 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.
2. Bessler M, Wilson BD, Mason PJ : Dyskeratosis congenita. FEBS Lett 2010; 584: 3831–3838.
3. Calado RT, Young NS : Telomere Diseases. N Engl J Med 2009; 361: 2353–2365.
4. 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.
5. 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.
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