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Article

Dyskeratosis congenita: telomerase, telomeres and anticipation.

Current opinion in genetics & development - 1 Jun 2005

Marrone Anna, Walne Amanda, Dokal Inderjeet

Abstract excerpt

Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. The identification of dyskeratosis congenita gene 1 (DKC1) mutations in X-linked recessive patients initially suggested that DC is a defective pseudouridylation disorder. The subsequent identification of mutations in the telomerase RNA component (TERC) of autosomal dominant DC patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Neutrophil, Myeloperoxidase and Oxidative Mechanisms

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Source

Identifiers

PMID: 15917199
DOI: 10.1016/j.gde.2005.04.004

Genes

DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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