Article
Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35.
Human molecular genetics - 1 May 1996
Rogaev E I, Rogaeva E A, Korovaitseva G I, Farrer L A, Petrin A N, Keryanov S A, Turaeva S, Chumakov I, St George-Hyslop P, Ginter E K
Abstract excerpt
Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members of the same family. PCC families included a la...
Topics
- Cataract
- Chromosomes, Human, Pair 2
- Crystallins
- Databases, Factual
- Female
- Genes, Dominant
- Genetic Linkage
- Humans
- Male
- Pedigree
- Phenotype
- Point Mutation
- Polymorphism, Genetic