A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes. The change in transthyretin conformation, leading to its destabilization and...

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Bibliographic Details
Main Authors: Olga S. Chumakova, Svetlana N. Nasonova, Yulia V. Frolova, Elena A. Stepanova, Elena A. Mershina, Valentin E. Sinitsyn, Dmitry A. Zateyshchikov, Igor V. Zhirov
Format: Article
Language:Russian
Published: "Consilium Medicum" Publishing house 2023-05-01
Series:Терапевтический архив
Subjects:
amyloidosis
transthyretin
hereditary
pathogenicity
variant
p.e112k
gene
cosegregation
phenotype
ethanol
Online Access:https://ter-arkhiv.ru/0040-3660/article/viewFile/472052/125352

Internet

https://ter-arkhiv.ru/0040-3660/article/viewFile/472052/125352

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