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Epigenomic profiles of African American <i>Transthyretin</i> Val122Ile carriers reveals putatively dysregulated amyloid mechanisms

2020-04-18

Abstract excerpt

The Val122Ile mutation in Transthyretin ( TTR ) gene causes a rare, difficult to diagnose hereditary form of cardiac amyloidosis. This mutation is most common in the United States and mainly present in people of African descent. The carriers have an increased risk of congestive heart failure and several other non-cardiac phenotypes such as carpal tunnel syndrome, peripheral edema, and arthroplasty which are top re...

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Literature Corpus work
334a6aed-c837-57e6-8a92-9766950e10f3
DOI
10.1101/2020.04.15.20066621
Open publication

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Epigenomic profiles of African American <i>Transthyretin</i> Val122Ile carriers reveals putatively dysregulated amyloid mechanismsDOI 10.1101/2020.04.15.20066621
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