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Article

The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

Human molecular genetics - 15 Feb 2012

Zeng Xi-Lei, Thumati Naresh R, Fleisig Helen B, Hukezalie Kyle R, Savage Sharon A, Giri Neelam, Alter Blanche P, Wong Judy M Y

Abstract excerpt

X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state telomerase RNA (TER) levels and shorter telomeres than healthy age-matched controls. Previously, we showed that retroviral...

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Identifiers

PMID: 22058290
DOI: 10.1093/hmg/ddr504
PMCID: PMC3263989

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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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The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.PMID 22058290Read ↗

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