Associated Papers
Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.
Singh A et al.
Journal of Clinical Medicine, 2025
Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.
O'Donnell LF et al.
Journal of the Peripheral Nervous System : Jpns, 2025
Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.
Ventayol-Guirado M et al.
Scientific Reports, 2025
A computational approach to predict the effects of missense mutations on protein amyloidogenicity: A case study in hereditary transthyretin cardiomyopathy.
Pyankov IA et al.
Journal of Structural Biology, 2025
Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.
Aung N et al.
Jama Cardiology, 2024
Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo C et al.
European Journal of Human Genetics : Ejhg, 2019
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