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

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 recorded. The diagnosis of GCD was made on the basis of clinical evaluation. The genomic DNA was extracted from peripheral...

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