[1] Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenital. British Journal of Haematology.2009,145,164-172. [2] Armanios M, Alder JK, 1 Parry EM,et al. Short Telomeres are Sufficient to Cause the Degenerative Defects Associated with Aging. The American Journal of Human Genetics.2009,85, 823-832. [3] Connor JM,Gatherer D,Gray FC,et al .Assignment of the gene for dyskeratosis congenita to Xq28.Hum.Genet.1986，72，348-351. [4] Heiss NS,Knight SW,Vulliamy TJ,et al.X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.NatGenet.1998, 19(1),32-38. [5] Kannan K, Nelson ADL, Shippen DE. Dyskerin Is a Component of the Arabidopsis Telomerase RNP Required for Telomere Maintenance. Molecular and Cellular Biology.2008,28(7), 2332-2341. [6] Vulliamy TJ, Walne A, Baskaradas A,et al. Mutations in the reverse transcriptase component of telomerase(TERT) in patients with bone marrow failure. Blood Cells, Molecules, and Diseases . 2005, 34,257-263. [7] Hong YD, 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. [8] Marrone A,WalneA, Tamary H,et al. Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenital and Hoyeraal-Hreidarsson syndrome.Blood.2007,110,4198-4205. [9] Vulliamy TJ, Baskaradas A, Mason PJ，et al .Mutations in the reverse transcriptase component of telomerase(TERT)in patients with bone marrow fail，Blood Cells,Molecules,and Diseases. 2005,34,257-263. [10] Walne J, Vulliamy T, Beswick R,et al. Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase associated proteinNOP10.Human Mol Genet. 2007, 16,1619-1629. [11] Savage SA., Giri N, Baerloche GM,et al.TINF2,a Component of the Shelterin Telomere Protection Complex,Is Mutated in Dyskeratosis Congenita.The American Journal of Human Genetics . 2008,82,501-509. [12] Vulliamy T, Beswick R, Kirwan M ,et al. Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenital. PNAS.2008,105(23), 8073-8078. [13] He H, Wang Y, Guo Xl et al. Pot1b Deletion and Telomerase Haploinsufficiency in Mice Initiate an ATR-Dependent DNA Damage Response and Elicit Phenotypes Resembling Dyskeratosis Congenita . Molecular and Cellular Biology. 2009, 29(1),229-240. [14] Walne A J, Vulliamy T, Beswick R,et al. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.BLOOD,.2008 ,112( 9), 3594-3600. [15] Mitchell JR,Wood E,Collins K. A telomerase component is defective in the human disease dyskeratosis congenita.Nature.1999，402,551-555. [16] Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mechanisms of Ageing and Development. 2008,129, 35-47. [17] Hockemeyer D, Palm W, Wang RC,et al. Engineered telomere degradation models dyskeratosis congenital.Genes﹠ Developmengt. 2008 ,22,1773-1785. [18] Vulliany TJ,Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie.2008,90(1):122-130. [19] Calado RT, Regal JA, Hills M，et al. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. PNAS,2009,106(4),1187-1192. [20] Kirwan M, Beswick R, Vulliamy T,et al. Exogenous TERC alone can enhance proliferative potential,telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.British Journal of Haemotology.2008,144, 771–781.