Kanegane H, Kasahara Y, Okamura J, Hongo T, Tanaka R, Nomura K, Kojima S, Miyawaki T

Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.

Br J Haematol 129:432-4 (2005)
DOI:10.1111/j.1365-2141.2005.05473.x

Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

Br J Haematol 107:335-9 (1999)
DOI:10.1046/j.1365-2141.1999.01690.x