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Article

A molecular switch underlies a human telomerase disease.

Proceedings of the National Academy of Sciences of the United States of America - 24 Dec 2002

Comolli Luis R, Smirnov Ivan, Xu Lifeng, Blackburn Elizabeth H, James Thomas L

Abstract excerpt

Telomerase is a ribonucleoprotein (RNP) required for maintenance of telomeres. Although up-regulated telomerase activity is closely linked to the cellular immortality characteristic of late stage carcinogenesis, recently, mutations in the telomerase RNA gene in humans have been associated with dyskeratosis congenita and aplastic anemia, both typified by impaired haemopoietic function. These mutations include base...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12482936
DOI: 10.1073/pnas.262663599
PMCID: PMC139258

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A molecular switch underlies a human telomerase disease.PMID 12482936Read ↗

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