R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.

Abstract excerpt

PURPOSE: 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 two Spanish families affected by lattice type I or granular type I corneal dystrophies. METHODS: We recruited 13 subjects from two unrelated families diagnosed with autosomal dominant lattice type I or granular type I corneal dystrophies....

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