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Article

Dyskeratosis congenita: its link to telomerase and aplastic anaemia.

Blood reviews - 1 Dec 2003

Dokal Inderjeet, Vulliamy Tom

Abstract excerpt

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome exhibiting considerable clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms are recognised. The gene mutated in X-linked DC (DKC1) encodes a highly conserved nucleolar protein called dyskerin. Dyskerin associates with the H/ACA class of small nucleolar RNAs which are important in guiding...

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Identifiers

PMID: 14556776
DOI: 10.1016/s0268-960x(03)00020-1

Genes

DKC1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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