Molecular genetics of Chinese families with TGFBI corneal dystrophies

@inproceedings{Zhang2011MolecularGO,
  title={Molecular genetics of Chinese families with TGFBI corneal dystrophies},
  author={Ting Zhang and Naihong Yan and Wenhan Yu and Yun Liu and Guo Guo Liu and Xiaomei Wu and Jinxian Lian and Xuyang Liu},
  booktitle={Molecular vision},
  year={2011}
}
PURPOSE To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2). METHODS Clinical features of GCD1 and GCD2 in three Chinese families were studied with slit-lamp and in vivo laser scanning confocal microscopy (LSCM). Molecular genetic analysis was performed on nine patients and fifteen unaffected individuals from these… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-9 OF 9 CITATIONS

References

Publications referenced by this paper.
SHOWING 1-10 OF 30 REFERENCES

Mutation hot spots in 5q31-linked corneal dystrophies.

  • American journal of human genetics
  • 1998
VIEW 9 EXCERPTS
HIGHLY INFLUENTIAL

cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular Molecular Vision

J Escribano, N Hernando, S Ghosh, J Crabb, M. Coca-Prados
  • J Cell Physiol
  • 2011
VIEW 2 EXCERPTS

Corneal dystrophies

  • Orphanet journal of rare diseases
  • 2009
VIEW 1 EXCERPT