Article
TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients.
The British journal of ophthalmology - 1 Jul 2010
Vincent Andrea L, de Karolyi Betina, Patel Dipika V, Wheeldon Catherine E, McGhee Charles N J
Abstract excerpt
AIM: The corneal dystrophies represent a group of clinically and genetically heterogeneous, inherited diseases, often resulting in bilateral opacification of the cornea, and may require penetrating keratoplasty. Mutations in the transforming growth factor beta-induced (TGFBI) gene segregate with a wide range of phenotypically heterogeneous corneal dystrophies. Many of the other dystrophies remain without...
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