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Article

YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA.

RNA (New York, N.Y.) - 1 Dec 2003

Theimer Carla A, Finger L David, Feigon Juli

Abstract excerpt

Autosomal dominant dyskeratosis congenita (DKC) has been linked to mutations in the RNA component of telomerase, the ribonucleoprotein responsible for telomere maintenance. Recent studies have investigated the role of the GC (107-108) --> AG mutation in the conserved P3 helix in the pseudoknot domain of human telomerase RNA. The mutation was found to significantly destabilize the pseudoknot conformation,...

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Identifiers

PMID: 14624001
DOI: 10.1261/rna.5152303
PMCID: PMC1370499

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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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YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA.PMID 14624001Read ↗

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