The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
Vulliamy, Tom; Marrone, Anna; Goldman, Frederick; Dearlove, Andrew; Bessler, Monica; Mason, Philip J.; Doka, Inderjeet; Nature, 2001, vol. 413, issue 6854, p 432, ISSN 00280836. ISBN 00280836.

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