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Article

A Novel Variant of Granular Corneal Dystrophy Caused by Association of 2 Mutations in the TGFBI Gene—R124L and ΔT125-ΔE126

1 Jun 2000

Abstract excerpt

OBJECTIVE: To characterize the molecular defect in the TGFBI gene in a French family affected with an atypical granular corneal dystrophy. PATIENTS: This family comprises 9 affected individuals across 3 generations without consanguineous marriage. METHODS: Light and electron microscopy were used to examine corneal buttons from patients. Exons of the TGFBI gene were amplified by polymerase chain reaction and...

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Corneal surgery and disorders
Corneal Surgery and Treatments
TGF-β signaling in diseases

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10865320
DOI: 10.1001/archopht.118.6.814

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