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Article

Biochemical and biophysical properties of an unreported T96R mutation causing transthyretin cardiac amyloidosis.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2023

Jiang Meng, Wang Mengdie, Tao Zhengyu, Chai Yezi, Liu Qiming, Lu Qifan, Wu Qizhen, Ying Xiaoying, Huang Yanan, Nie Ying, Tang Yuqi, Zhang Xin, Liu Yu, Pu Jun

Abstract excerpt

OBJECTIVES: We presented an unreported T96R mutation induced transthyretin cardiac amyloidosis (ATTR). The biochemical and biophysical properties were explored to support its pathogenicity. BACKGROUND: Understanding the biochemical and biophysical nature of genetically mutated transthyretin (TTR) proteins is key to provide precise medical cares for ATTR patients. RESULTS: Genetic testing showed heterozygosity for...

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PMID: 36350689
DOI: 10.1080/13506129.2022.2142109

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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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