Article
Epigenetic profiling of Italian patients identified methylation sites associated with hereditary transthyretin amyloidosis.
Clinical epigenetics - 17 Nov 2020
De Lillo Antonella, Pathak Gita A, De Angelis Flavio, Di Girolamo Marco, Luigetti Marco, Sabatelli Mario, Perfetto Federico, Frusconi Sabrina, Manfellotto Dario, Fuciarelli Maria, Polimanti Renato
Abstract excerpt
Hereditary transthyretin (TTR) amyloidosis (hATTR) is a rare life-threatening disorder caused by amyloidogenic coding mutations located in TTR gene. To understand the high phenotypic variability observed among carriers of TTR disease-causing mutations, we conducted an epigenome-wide association study (EWAS) assessing more than 700,000 methylation sites and testing epigenetic difference of TTR coding mutation...
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