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Article

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.

The New England journal of medicine - 7 Apr 2005

Yamaguchi Hiroki, Calado Rodrigo T, Ly Hinh, Kajigaya Sachiko, Baerlocher Gabriela M, Chanock Stephen J, Lansdorp Peter M, Young Neal S

Abstract excerpt

BACKGROUND: Mutations in TERC, the gene for the RNA component of telomerase, cause short telomeres in congenital aplastic anemia and in some cases of apparently acquired hematopoietic failure. We investigated whether mutations in genes for other components of telomerase also occur in aplastic anemia. METHODS: We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15814878
DOI: 10.1056/NEJMoa042980

Genes

TERT
DKC1
NHP2
NOP10

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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Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.PMID 15814878Read ↗

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