Primary constitutional MLH1 epimutations: a focal epigenetic event
Abstract
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 other genomic loci. Twelve MLH1 epimutation...
Paper Details
Title
Primary constitutional MLH1 epimutations: a focal epigenetic event
Published Date
Oct 1, 2018
Journal
Volume
119
Issue
8
Pages
978 - 987
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