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TGFBI Gene Mutation Analysis in Chinese Families with Corneal Dystrophies.

Genetic testing and molecular biomarkers - 1 Jul 2016

Cai Jianqiu, Zhu Leru, Zha Yi, Kang Qianyan

Abstract excerpt

AIMS: To identify transforming growth factor beta-induced (TGFBI) gene mutations in four Chinese families affected by corneal dystrophies. METHODS: In this study, three families (21 patients and 18 normal relatives), respectively, with Reis-Bücklers corneal dystrophy (RBCD), classic lattice corneal dystrophy (LCDI), and variant LCD (LCDI/IIIA) were assessed. All subjects underwent a complete ophthalmological...

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Source

Identifiers

PMID: 27348782
DOI: 10.1089/gtmb.2015.0315

Genes

TGFBI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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