Article
A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.
The British journal of ophthalmology - 1 Oct 2011
Lakshminarayanan Rajamani, Vithana Eranga N, Chai Shu-Ming, Chaurasia Shyam S, Saraswathi Padhmanaban, Venkatraman Anandalaksmi, Rojare Camille, Venkataraman Divya, Tan Donald, Aung Tin, Beuerman Roger W, Mehta Jodhbir S
Abstract excerpt
BACKGROUND: To describe mutations in the transforming growth factor-beta induced (TGFBI) gene in Asian patients with Bowman's membrane as well as stromal corneal dystrophies, and to elucidate their structural implications, using model peptides. METHODS: Twenty-two unrelated Asian families were examined clinically including visual acuity testing and ocular examination with slit lamp biomicroscopy. Genomic DNA was...
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