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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 fam...

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Share to Amino Acid Substitution
Share to Amyloidosis, Familial
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23901247
PMCID: PMC3724954

Genes

TTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23901247-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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