Published in
American Society of Hematology, Blood, 7(128), p. 1003-1012
DOI: 10.1182/blood-2015-11-682153
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Allele-specific DNA methylation reinforces PEAR1 enhancer activity
Journal article published in 2016 by
Benedetta Izzi 
,
Mariaelena Pistoni,
Katrien Cludts,
Pinar Akkor,
Diether Lambrechts ,
Catherine Verfaillie ,
Peter Verhamme,
Kathleen Freson ,
Marc F. Hoylaerts
,
Mariaelena Pistoni,
Katrien Cludts,
Pinar Akkor,
Diether Lambrechts ,
Catherine Verfaillie ,
Peter Verhamme,
Kathleen Freson ,
Marc F. Hoylaerts
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Abstract
Key Points Rs12041331 is the first functional CpG-SNP related to platelet function whose regulatory mechanism depends on DNA methylation. Rs12041331 marks allele-specific methylation at the CpG island encompassing the first untranslated exon during megakaryopoiesis.