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Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Haematologica - 1 Aug 2007

Marrone Anna, Sokhal Priya, Walne Amanda, Beswick Richard, Kirwan Michael, Killick Sally, Williams Mike, Marsh Judith, Vulliamy Tom, Dokal Inderjeet

Abstract excerpt

BACKGROUND AND OBJECTIVES: Functional characterization of heterozygous TERC (telomerase RNA component) and TERT (telomerase reverse transcriptase) mutations found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) shows that telomerase function is defective and that this is associated with short telomeres. This leads to reduced cell longevity with maximal impact on tissues with high...

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Anemia, Aplastic
Dyskeratosis Congenita
Genetic Heterogeneity
Nevus, Pigmented
Pigmentation Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pulmonary Fibrosis

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Identifiers

PMID: 17640862
DOI: 10.3324/haematol.11407
PMCID: PMC2892775

Genes

TERT

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Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.PMID 17640862Read ↗

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