Journal of Animal and Veterinary Advances

Year: 2012
Volume: 11
Issue: 16
Page No. 2953 - 2956

GUCY2D Gene Mutation in a Family with Leber Congenital Amaurosis

Authors : Wu Li, Li Pengcheng and Xing Yiqiao

References

Galvin, J.A., G.A. Fishman, E.M. Stone and R.K. Koenekoop, 2005. Evaluation of genotype-phenotype associations in leber congenital amaurosis. Retina, 25: 919-929.
PubMed  |  Direct Link  |  

Hanein, S., I. Perrault, S. Gerber, G. Tanguy and F. Barbet et al., 2004. Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum. Mutat., 23: 306-317.
PubMed  |  

Hunt, D.M., P. Buch and M. Michaelides, 2010. Guanylate cyclases and associated activator proteins in retinal disease. Mol. Cell. Biochem., 334: 157-168.
PubMed  |  

Koch, K.W., T. Duda and R.K. Sharma, 2002. Photoreceptor specific guanylate cyclases in vertebrate phototransduction. Mol. Cell. Biochem., 230: 97-106.
PubMed  |  Direct Link  |  

Larhammar, D., K. Nordstrom and T.A. Larsson, 2009. Evolution of vertebrate rod and cone phototransduction genes. Philos. Trans. Soc. Lond. Biol. Sci., 364: 2867-2880.
Direct Link  |  

Lewis, R.A., 1988. Juvenile Hereditary Macular Dystrophies. In: Retinal Dystrophies and Degenerations, Newsome, D.A. (Ed.). Raven Press, New York, USA., ISBN-13:9780881671865, pp: 115-134.

Li, L., X. Xiao, S. Li, X. Jia and P. Wang et al., 2011. Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. PLoS One, Vol. 6.

Vallespin, E., D. Cantalapiedra, R. Riveiro-Alvarez, R. Wilke and J. Aguirre-Lamban et al., 2007. Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. Invest. Ophthalmol. Vis. Sci., 48: 5653-5661.
PubMed  |  Direct Link  |  

Design and power by Medwell Web Development Team. © Medwell Publishing 2024 All Rights Reserved