Article
Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
Proceedings of the National Academy of Sciences of the United States of America - 2 Feb 1999
Stephan D A, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis A D, Robbins C M, VanAuken A, Quesenberry M I, Bailey-Wilson J, Juo S H, Trent J M, Smith L, Brownstein M J
Abstract excerpt
Cataracts are a significant public health problem. Here, we describe the genetic alteration responsible for a progressive form of cataract, segregating as an autosomal dominant trait in a three-generation pedigree. Unlike most autosomal dominant cataracts, these are not clinically apparent at bir...
Topics
- Age of Onset
- Animals
- Cataract
- Cattle
- Crystallins
- Exons
- Female
- Genotype
- Humans
- Male
- Models, Molecular
- Nuclear Family
- Pedigree
- Point Mutation
- Polymerase Chain Reaction