Article
Autosomal dominant zonular cataract with sutural opacities is associated with a splice mutation in the betaA3/A1-crystallin gene.
Molecular vision - 23 Oct 1998
Kannabiran C, Rogan P K, Olmos L, Basti S, Rao G N, Kaiser-Kupfer M, Hejtmancik J F
Abstract excerpt
PURPOSE: Congenital cataracts constitute a morphologically and genetically heterogeneous group of diseases that are a major cause of childhood blindness. Autosomal Dominant Zonular Cataracts with Sutural Opacities (CCZS) have been mapped to chromosome 17q11-q12 near the betaA3A1-crystallin gene (...
Topics
- Amino Acid Sequence
- Base Sequence
- Cataract
- Crystallins
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA Splicing
- Sequence Analysis
- beta-Crystallin A Chain