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Article

Mutations of telomerase complex genes linked to bone marrow failures.

Journal of Nippon Medical School = Nippon Ika Daigaku zasshi - 1 Jun 2007

Yamaguchi Hiroki

Abstract excerpt

Dyskeratosis congenita (DKC) is a bone marrow failure (BMF) with characteristic physical anomalies, and is typically diagnosed in childhood. Some forms of DKC are known to be caused by mutations occurring in DKC1, telomerase RNA component (TERC), and telomerase reverse transcriptase (TERT). These genes are the main constituents of the telomerase complex that plays a role in replicating telomeres and stabilizing...

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Source

Identifiers

PMID: 17625368
DOI: 10.1272/jnms.74.202

Genes

TERT
BMF
DKC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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