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Article

DNA methylation in disease: Immunodeficiency, Centromeric instability, Facial anomalies syndrome.

Essays in biochemistry - 20 Dec 2019

Vukic Maja, Daxinger Lucia

Abstract excerpt

DNA methylation is an epigenetic modification essential for normal mammalian development. Initially associated with gene silencing, more diverse roles for DNA methylation in the regulation of gene expression patterns are increasingly being recognized. Some of these insights come from studying the function of genes that are mutated in human diseases characterized by abnormal DNA methylation landscapes. The first...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31724723
DOI: 10.1042/EBC20190035
PMCID: PMC6923317

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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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