2022 Southern Medical Research Conference

2022 Journal of Investigative Medicine  
Purpose of Study Genetic mutation in the TTR gene (rs76992529; Val122Ile) seen exclusively in individuals with African ancestry (population frequency: 3-4%) causes misfolding of the tetrameric transthyretin protein complex that accumulates as extracellular amyloid fibrils seen in hereditary transthyretin amyloidosis (hATTR).
doi:10.1136/jim-2022-srmc fatcat:vven2gyfdvao5n7bid3chsjyke