Targeted Exon Sequencing in Usher Syndrome Type I [Biochemistry and Molecular Biology]

Conclusions.
We found a remarkable genetic heterogeneity in the studied USH1 cohort with multiplicity of mutations, of which many were novel. No obvious influence of genotype on phenotype was found, possibly due to small sample sizes of the genotypes under study.

Source: Investigative Ophthalmology - December 29, 2014 Category: Opthalmology Authors: Bujakowska, K. M., Consugar, M., Place, E., Harper, S., Lena, J., Taub, D. G., White, J., Navarro-Gomez, D., Weigel DiFranco, C., Farkas, M. H., Gai, X., Berson, E. L., Pierce, E. A. Tags: Biochemistry and Molecular Biology Source Type: research