Article

Clinical differential factors in patients with hereditary transthyretin amyloidosis with Val142Ile and Ser43asn mutations

2024-11-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> 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 to describe the neurological an...

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Literature Corpus work: 0b257aed-cae2-59d4-8172-d12f31bebda6
DOI: 10.21203/rs.3.rs-4858133/v1

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