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Epigenetic profiling of Italian patients identified methylation sites associated with hereditary Transthyretin amyloidosis

2020-04-17

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 carri...

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Literature Corpus work
556b4033-fad4-557f-af70-e870a9538495
DOI
10.1101/2020.04.13.20064006
Open publication

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Epigenetic profiling of Italian patients identified methylation sites associated with hereditary Transthyretin amyloidosisDOI 10.1101/2020.04.13.20064006
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