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Article

Mutation p.G83R in the transthyretin gene is associated with hereditary vitreous amyloidosis in Han Chinese families.

Molecular vision - 1 Jan 2013

Zhang A-Mei, Wang Hui, Sun Peng, Hu Qiu-Xiang, He Yuqing, Yao Yong-Gang

Abstract excerpt

PURPOSE: Hereditary vitreous amyloidosis (HVA) is a genetic ophthalmological disorder. The purpose of this study was to investigate whether a mutation in the transthyretin (TTR) gene is associated with HVA in Han Chinese families. METHODS: We performed clinical evaluation of three Han Chinese families with HVA and sequenced the entire exon of the TTR gene in probands and normal individuals from the families. The...

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Identifiers

PMID: 23901247
PMCID: PMC3724954

Genes

TTR

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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