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Article

Primary constitutional MLH1 epimutations: a focal epigenetic event

21 Aug 2018

Abstract excerpt

BACKGROUND: Constitutional MLH1 epimutations are characterised by monoallelic methylation of the MLH1 promoter throughout normal tissues, accompanied by allele-specific silencing. The mechanism underlying primary MLH1 epimutations is currently unknown. The aim of this study was to perform an in-depth characterisation of constitutional MLH1 epimutations targeting the aberrantly methylated region around MLH1 and...

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PMID: 30283143
DOI: 10.1038/s41416-018-0019-8

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