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Article

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Blood - 9 Jul 2015

Collopy Laura C, Walne Amanda J, Cardoso Shirleny, de la Fuente Josu, Mohamed Mahfuzah, Toriello Helga, Tamary Hannah, Ling Adam J Y V, Lloyd Timothy, Kassam Rebecca, Tummala Hemanth, Vulliamy Thomas J, Dokal Inderjeet

Abstract excerpt

Dyskeratosis congenita (DC) and related diseases are a heterogeneous group of disorders characterized by impaired telomere maintenance, known collectively as the telomeropathies. Disease-causing variants have been identified in 10 telomere-related genes including the reverse transcriptase (TERT) and the RNA component (TERC) of the telomerase complex. Variants in TERC and TERT can impede telomere elongation...

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Identifiers

PMID: 26024875
DOI: 10.1182/blood-2015-03-633388
PMCID: PMC4574016

Genes

TERT

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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