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Clinical features of familial amyloidotic polyneuropathy with transthyretin p.Ala117Ser mutation in South Mainland China

2025-04-03

Abstract excerpt

<title>Abstract</title> <p>Objective Our study aimed to report the clinical features and epidemiological characteristics of hereditary transthyretin amyloidosis-polyneuropathy(ATTRv-PN) with <italic>TTR</italic> Ala97Ser(p.Ala117Ser) mutation from South Mainland China. Methods We identified 21 patients from 20 families diagnosed with Ala97Ser(p.Ala117Ser) ATTRv-PN based on strict clinical and electrophysiologic...

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Literature Corpus work: bbb1e458-264e-5173-97d8-bb766735cba7
DOI: 10.21203/rs.3.rs-5950252/v1

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