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

@article{BlancoMarchite2007R124CAR,
  title={R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies.},
  author={Cristina Isabel Blanco-Marchite and F. S{\'a}nchez-S{\'a}nchez and Enrique L{\'o}pez-S{\'a}nchez and Julio Escribano},
  journal={Molecular vision},
  year={2007},
  volume={13},
  pages={1390-6}
}
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. Corneal phenotypes were assessed by slit lamp examination. Genomic DNA was obtained… CONTINUE READING