Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature | Clinical Epigenetics | Full Text

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature | Clinical Epigenetics | Full Text

Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern.

Authors:Andrea Ciolfi, Erfan Aref-Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia A. L. Ruivenkamp, Gijs W. E. Santen, Emilia Bijlsma, Daniela Barge-Schaapveld, Katrin Ounap, Victoria Mok Siu, R. Frank Kooy…

Citation:Clinical Epigenetics 2020 12:7

Content type:Short report

Published on: 7 January 2020

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