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
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Title
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
Authors
Keywords
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Journal
TERAPEVTICHESKII ARKHIV
Volume 95, Issue 4, Pages 335-340
Publisher
Consilium Medicum
Online
2023-06-01
DOI
10.26442/00403660.2023.04.202160
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- (2019) Luis R. Lopes et al. AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
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- Genotype and Phenotype of Transthyretin Cardiac Amyloidosis
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- Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African–Americans
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- Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective
- (2012) C. Rapezzi et al. EUROPEAN HEART JOURNAL
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