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Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Dec 2024

Wang Qingping, Wang Mengdie, Zhu Xiying, Liu Lei, Wang Mengli, Sun Jialu, Li Xiaobo, Huang Shunxiang, Cao Wanqian, Liu Yu, Zhang Ruxu

Abstract excerpt

OBJECTIVE: This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant protein. METHODS: Fifteen ATTRv-PN patients with heterozygous A97S and one patient with homozygous A97S were included in the study. Serum TTR tetramer concentration was quantified through...

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PMID: 39082942
DOI: 10.1080/13506129.2024.2383467

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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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