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Article

The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 7 Dec 1999

Hansen R S, Wijmenga C, Luo P, Stanek A M, Canfield T K, Weemaes C M, Gartler S M

Abstract excerpt

DNA methylation is an important regulator of genetic information in species ranging from bacteria to humans. DNA methylation appears to be critical for mammalian development because mice nullizygous for a targeted disruption of the DNMT1 DNA methyltransferase die at an early embryonic stage. No DNA methyltransferase mutations have been reported in humans until now. We describe here the first example of naturally...

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Identifiers

PMID: 10588719
DOI: 10.1073/pnas.96.25.14412
PMCID: PMC24450

Genes

DNMT1

Provenance

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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