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Article

NOLA1 gene mutations in acquired aplastic anemia.

Pediatric blood & cancer - 1 Mar 2009

Pigullo Simona, Pavesi Elisa, Dianzani Irma, Santamaria Giuseppe, Svahn Johanna, Risso Marco, Van Lint Maria Teresa, Pillon Marta, Iori A P, Longoni Daniela, Ramenghi Ugo, Lanciotti Marina, Dufour Carlo

Abstract excerpt

BACKGROUND: Telomerase complex genes mutations (DKC1, TERC, TERT, and NOP10) lead to premature telomere shortening and are responsible for different forms of dyskeratosis congenita. TERC and TERT mutations were also found in patients with aplastic anemia. The aim of this work is to analyze the possible involvement of the telomerase complex gene NOLA1, in a population of Italian AA patients. PROCEDURE: DNA of 108...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Genetic

Share to Ribonucleoproteins, Small Nucleolar

Source

Identifiers

PMID: 18989882
DOI: 10.1002/pbc.21813

Genes

TERT
DKC1
NOP10

Provenance

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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