Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.

Abstract excerpt

INTRODUCTION/AIMS: Hereditary transthyretin amyloidosis (ATTRv) is a genetic condition caused by pathogenic variants in the transthyretin (TTR) gene resulting in multisystem amyloid deposition, especially in peripheral nerve and heart. Information on the prevalence of ATTRv in the United States is limited. The objective of this study was to understand the prevalence and genetic ancestry in the Val142Ile...

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• Aged
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• Amyloid Neuropathies, Familial
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• Exome Sequencing