Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins
Antonella De Lillo,
Gita A. Pathak,
Aislinn Low
et al.
Abstract:Purpose
Coding mutations in the Transthyretin (TTR) gene cause a hereditary form of amyloidosis characterized by a complex genotype-phenotype correlation with limited information regarding differences among worldwide populations.
Methods
We compared 676 diverse individuals carrying TTR amyloidogenic mutations (rs138065384, Phe44Leu; rs730881165, Ala81Thr; rs121918074, His90Asn; rs76992529, Val122Ile) to 12,430 non-carriers matched by age, sex, and … Show more
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