Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43Asn mutations
Abstract Background Hereditary transthyretin amyloidosis (hATTR) is a rare autosomal dominant disease with high clinical variability, influenced by both genotype and the geographic origins of carriers.There is a limited understanding of the Val142Ile and Ser43Asn recognised mutations in Ecuador and Colombia.Therefore, the objective of this study is