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Article

The role of telomere biology in bone marrow failure and other disorders.

Mechanisms of ageing and development - 1 Jan 2000

Savage Sharon A, Alter Blanche P

Abstract excerpt

Telomeres, consisting of nucleotide repeats and a protein complex at chromosome ends, are essential in maintaining chromosomal integrity. Dyskeratosis congenita (DC) is the inherited bone marrow failure syndrome (IBMFS) that epitomizes the effects of abnormal telomere biology. Patients with DC have extremely short telomere lengths (<1st percentile) and many have mutations in telomere biology genes. Interpretation...

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Identifiers

PMID: 18160098
DOI: 10.1016/j.mad.2007.11.002
PMCID: PMC2278290

Provenance

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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