Article
A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein-2.
American journal of human genetics - 1 Apr 2000
Conley Y P, Erturk D, Keverline A, Mah T S, Keravala A, Barnes L R, Bruchis A, Hess J F, FitzGerald P G, Weeks D E, Ferrell R E, Gorin M B
Abstract excerpt
Juvenile-onset cataracts are distinguished from congenital cataracts by the initial clarity of the lens at birth and the gradual development of lens opacity in the second and third decades of life. Genomewide linkage analysis in a multigenerational pedigree, segregating for autosomal dominant juvenile-onset cataracts, identified a locus in chromosome region 3q21.2-q22.3. Because of the proximity of the gene...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.