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Article

Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts

1 Jan 2013

Abstract excerpt

Mutations in the human DNA methyltransferase 3B (DNMT3B) gene lead to ICF (immunodeficiency, centromeric region instability, and facial anomalies) syndrome type I. We have previously described a telomere-related phenotype in cells from these patients, involving severe hypomethylation of subtelomeric regions, abnormally short telomeres and high levels of telomeric-repeat-containing RNA (TERRA). Here we demonstrate...

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Identifiers

PMID: 23450006
DOI: 10.3389/fonc.2013.00035

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