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Article

Characterization of Transthyretin Mutation G47V Associated with Hereditary Cardiac Amyloidosis.

Cardiology - 1 Jan 2024

He Xiaopeng, Wang Mengdie, Sun Jialu, Yu Zhengyang, Hu Xinyang, Liu Yu, Lin Xiaoping

Abstract excerpt

INTRODUCTION: Amyloidosis caused by TTR mutations (ATTRv) is a rare inherited and autosomal dominant disease. More than 150 mutants of TTR have been reported, whereas some of them remain to be investigated. METHODS: A 52-year-old male presented with heart failure and clinically diagnosed ATTR cardiac amyloidosis (ATTR-CA) was recruited. Whole-exome sequencing (WES) was performed. Biochemical and biophysical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38437799
DOI: 10.1159/000538081
PMCID: PMC11309070

Genes

TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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