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Article

Human diseases of telomerase dysfunction: insights into tissue aging.

Nucleic acids research - 1 Jan 2007

Garcia Christine Kim, Wright Woodring E, Shay Jerry W

Abstract excerpt

There are at least three human diseases that are associated with germ-line mutations of the genes encoding the two essential components of telomerase, TERT and TERC. Heterozygous mutations of these genes have been described for patients with dyskeratosis congenita, bone marrow failure and idiopathic pulmonary fibrosis. In this review, we will detail the clinical similarities and difference of these diseases and...

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Identifiers

PMID: 17913752
DOI: 10.1093/nar/gkm644
PMCID: PMC2190725

Genes

TERT

Provenance

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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