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Article

Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 May 2009

Chang Liu, Zhiqun Wang, Shijing Deng, Chen Zhang, Qingfeng Liang, Li Li, Xuguang Sun

Abstract excerpt

OBJECTIVE: To analyze transforming growth factor beta-induced (TGFBI) gene mutations in 2 Chinese families with Thiel-Behnke corneal dystrophy (TBCD). METHODS: Forty-five individuals in 2 Chinese families with TBCD were examined using slitlamp biomicroscopy. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. Molecular genetic analysis of the TGFBI gene was performed...

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Source

Identifiers

PMID: 19433713
DOI: 10.1001/archophthalmol.2009.71

Genes

TGFBI
TBCD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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