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Article

R555W mutation of TGFbetaI related to granular corneal dystrophy in Chinese patients.

Chinese medical journal - 20 Nov 2009

Hu Lei, Xu Fei, Ma Wei-jian, Zhang Hua, Sui Rui-fang

Abstract excerpt

BACKGROUND: Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies. We investigated the role of this gene in a Chinese family affected by granular corneal dystrophy (GCD). METHODS: Family history and phenotypic data were recor...

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Source

Identifiers

PMID: 19951597

Genes

TGFBI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19951597-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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