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TINF2, a Component of the Shelterin Telomere Protection Complex, is Mutated in Dyskeratosis Congenita. Savage S.S.,Giri N, Baerlocher, G.M., Orr, N., Lansdorp P.M., and Alter, B.P. . J.Hum. Gen. 82(2): 501-9 (2008)

February 19, 2008May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications

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Telomerase mutations in families with idiopathic pulmonary fibrosis. Armanios, M. Y. et al. Engl J Med 356, 1317-26 (2007)
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. Parry, E.M. et al. J Med Genet. (2011)

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