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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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Asian People
Corneal Dystrophies, Hereditary
Extracellular Matrix Proteins
Mutation, Missense
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymerase Chain Reaction

Transforming Growth Factor beta

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Identifiers

PMID: 19433713
DOI: 10.1001/archophthalmol.2009.71

Genes

TGFBI
TBCD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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