Presence of the V122I Variant of Hereditary Transthyretin-Mediated Amyloidosis Among Self-Reported White Individuals in a Sponsored Genetic Testing Program

Circ Genom Precis Med. 2021 Oct;14(5):e003466. doi: 10.1161/CIRCGEN.121.003466. Epub 2021 Aug 31.
No abstract available

Keywords: amyloid neuropathies; amyloidosis; cardiomyopathies; penetrance; prevalence.

Publication types

  • Clinical Trial
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Amyloid Neuropathies, Familial / genetics*
  • Female
  • Genetic Testing*
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Prealbumin / genetics*
  • Self Report
  • White People / genetics*

Substances

  • Prealbumin
  • TTR protein, human

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related