Dyskeratosis congenita

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Heiss NS, Knight SW, Vulliamy TJ etal. (1998) X-linked dysker-atosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics 19: 32-8.

Knight SW, Heiss NS, Vulliamy TJ et al. (1999) Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. British Journal of Haematology 107: 335-9.

Mitchell JR, Wood E, Collins K (1999) A telomerase component is defective in the human disease dyskeratosis congenita. Nature 402: 551-5.

Vulliamy T, Marrone A, Goldman F etal. (2001) The RNA component of telomerase is mutated in autosomal dominant dysker-atosis congenita. Nature 413:432-5.

Vulliamy T, Marrone A, Dokal I etal. (2002) Association between aplastic anaemia and mutations in telomerase RNA. Lancet 359: 2168-70.

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