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Article

Hereditary transthyretin amyloidosis in mainland China: a unicentric retrospective study.

Annals of clinical and translational neurology - 1 Apr 2021

Du Kang, Li Fan, Wang Hui, Miao Yuanfeng, Lv He, Zhang Wei, Wang Zhaoxia, Yuan Yun, Meng Lingchao

Abstract excerpt

OBJECTIVE: This study aims to report the genotypes and phenotypes of hereditary transthyretin amyloidosis (ATTR) in a large Chinese cohort, yet the clinical and genetic profiles of ATTR remain elusive in mainland China. METHODS: Fifty-four patients with molecularly confirmed ATTR from 39 unrelated families were identified by sequencing the TTR gene. Sural nerve biopsies were performed in 40 of these cases. The...

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Identifiers

PMID: 33739616
DOI: 10.1002/acn3.51328
PMCID: PMC8045954

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