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Article

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

PloS one - 1 Jan 2011

Vulliamy Tom J, Kirwan Michael J, Beswick Richard, Hossain Upal, Baqai Charlotte, Ratcliffe Anna, Marsh Judith, Walne Amanda, Dokal Inderjeet

Abstract excerpt

The bone marrow failure syndrome dyskeratosis congenita (DC) has been considered to be a disorder of telomere maintenance in which disease features arise due to accelerated shortening of telomeres. By screening core components of the telomerase and shelterin complexes in patients with DC and related bone marrow failure syndromes we have identified 24 novel mutations: 11 in the RNA component of telomerase (TERC),...

Topics

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Child, Preschool
Infant
Severity of Illness Index
Shelterin Complex
Telomerase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Telomere-Binding Proteins

Telomere Homeostasis

Source

Open in PubMed Open full text

Identifiers

PMID: 21931702
DOI: 10.1371/journal.pone.0024383
PMCID: PMC3172236

Genes

DKC1
TERT
TINF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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