A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation.

Autor: Blackburn, Patrick R.1,2, Williams, Monique3, Cousin, Margot A.4,5, Boczek, Nicole J.4,5, Beek, Geoffrey J.4,6, Lomberk, Gwen A.7,8, Urrutia, Raul A.7,8, Babovic‐Vuksanovic, Dusica4,6,9 dbabovic@mayo.edu, Klee, Eric W.4,5,6,9 klee.eric@mayo.edu
Zdroj: Molecular Genetics & Genomic Medicine. Mar2017, Vol. 5 Issue 2, p141-146. 6p.
Databáze: Academic Search Ultimate
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