Epidemiology of variant transthyretin amyloidosis at a reference center in Argentina.

María Sáez SáezMaria A AguirreDiego Pérez de ArenazaPatricia SorrocheElsa NuciforaMaria L Posadas Martinez

Published in: Molecular genetics & genomic medicine (2021)

We present the first prevalence report of TTR mutations in a reference center of amyloidosis in Argentina. The most frequent genetic variant was p.Val50Met. Our data show considerable phenotypic heterogeneity in the patients with ATTRv.

Keyphrases

risk factors
multiple myeloma
electronic health record
genome wide
tyrosine kinase
big data
copy number
gene expression
dna methylation
data analysis
machine learning