Ontology highlight
ABSTRACT:
SUBMITTER: Conley YP
PROVIDER: S-EPMC1288209 | biostudies-literature | 2000 Apr
REPOSITORIES: biostudies-literature
Conley Y P YP Erturk D D Keverline A A Mah T S TS Keravala A A Barnes L R LR Bruchis A A Hess J F JF FitzGerald P G PG Weeks D E DE Ferrell R E RE Gorin M B MB
American journal of human genetics 20000322 4
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 coding for lens beaded filament structural protein-2 (BFSP2) to this locus, we screened f ...[more]