- Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophyMaria Carolina Ortube
Department of Ophthalmology, Jules Stein Eye Institute, David Geffen School of Medicine at University of California, Los Angeles, CA DS 2 545, USA
BMC Med Genet 15:11. 2014..This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene. The child became legally blind within a period of 2 years...
- Molecular diagnosis of putative Stargardt Disease probands by exome sequencingSamuel P Strom
Jules Stein Eye Institute, University of California Los Angeles, 200 Stein Plaza, Los Angeles, CA 90095, USA
BMC Med Genet 13:67. 2012..However, high phenotypic and allelic heterogeneity and a small but non-trivial amount of locus heterogeneity currently impede conclusive molecular diagnosis in a significant proportion of cases...