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The Gly103Arg variant in hereditary transthyretin amyloidosis

BackgroundHereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited systematic disease primarily affecting the peripheral and autonomic nervous system, heart, eyes and kidney. Over 140 variants have been identified worldwide, with the Gly103Arg variant reported exclusively in C...

Celý popis

Uloženo v:
Hlavní autoři: Yihan Xiong, Gongcheng Qu, Xiaoyu Lu, Xin Chang, Miaoping Zhang, Jiantang Liang, Kexing Lin, Xiaoman Zhao, Xuejun Fu, Ying Huang, Qianhui Xu
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2024-09-01
Edice:Frontiers in Neurology
Témata:
hereditary transthyretin amyloidosis
p.G103R variant
peripheral neuropathy
vitreous opacity
Chinese population
On-line přístup:https://www.frontiersin.org/articles/10.3389/fneur.2024.1471131/full
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