This project involved linkage analysis of a single large pedigree with multiple family members affected with punctate cataracts. Genotyping for a genome screen and linkage analyses have been completed. A detailed search for the locus involved is under way. A publication is in preparation.
| Stephan, D A; Gillanders, E; Vanderveen, D et al. (1999) Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proc Natl Acad Sci U S A 96:1008-12 |
