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1)Nishio N, Kojima S. Recent progress in dyskeratosis congenita. Int J Hematol. 2010; 92: 419-24
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2)Calado RT, Young NS. Telomere maintenance and human bone marrow failure. Blood. 2008; 111: 4446-55
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3)Walne AJ, 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: 3594-600
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4)Calado RT, Young NS. Telomere diseases. N Engl J Med. 2009; 361: 2353-65
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5)Zhong F, Savage SA, Shkreli M, et al. Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes Dev. 2011; 25: 11-6
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6)Walne AJ, Vulliamy T, Kirwan M, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Human Genet. 2013; 92: 448-53
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7)Le Guen T, Jullien L, Touzot F, et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet. 2013; 22: 3239-49
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8)Ballew BJ, Yeager M, Jacobs K, et al. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in dyskeratosis congenita. Human genetics 2013; 132: 473-80
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9)Yamaguchi H, Baerlocher GM, Lansdorp PM, et al. Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. Blood. 2003; 102: 916-8
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10)Yamaguchi H, Calado RT, Ly H, et al. Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. N Engl J Med. 2005; 352: 1413-24
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11)Savage SA, Calado RT, Xin ZT, et al. Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol. 2006; 34: 664-71
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12)Scheinberg P, Cooper JN, Sloand EM, et al. Association of telomere length of peripheral blood leukocytes with hematopoietic relapse, malignant transformation, and survival in severe aplastic anemia. JAMA. 2010; 304: 1358-64
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13)Sugimori C, Chuhjo T, Feng X, et al. Minor population of CD55-CD59- blood cells predicts response to immunosuppressive therapy and prognosis in patients with aplastic anemia. Blood. 2006; 107: 1308-14
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14)Yoshida N, Yagasaki H, Takahashi Y, et al. Clinical impact of HLA-DR15, a minor population of paroxysmal nocturnal haemoglobinuria-type cells, and an aplastic anaemia-associated autoantibody in children with acquired aplastic anaemia. Br J Haematol. 2008; 142: 427-35
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15)Sakaguchi H, Nishio N, Hama A, et al. Peripheral blood lymphocyte telomere length as a predictor of response to immunosuppressive therapy in childhood aplastic anemia. Haematologica. 2014; 99: 1312-6
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16)Narita A, Muramatsu H, Sekiya Y, et al. Paroxysmal nocturnal hemoglobinuria and telomere length predicts response to immunosuppressive therapy in pediatric aplastic anemia. Haematologica. 2015; 100: 1546-52
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