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Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome.

Blood - 1 Aug 2003

Yamaguchi Hiroki, Baerlocher Gabriela M, Lansdorp Peter M, Chanock Stephen J, Nunez Olga, Sloand Elaine, Young Neal S

Abstract excerpt

Mutations in the human telomerase RNA (TERC) occur in autosomal dominant dyskeratosis congenita (DKC). Because of the possibility that TERC mutations might underlie seemingly acquired forms of bone marrow failure, we examined blood samples from a large number of patients with aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), and myelodysplasia (MDS). Only 3 of 210 cases showed heterozygous TERC...

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Identifiers

PMID: 12676774
DOI: 10.1182/blood-2003-01-0335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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