The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

"Ant-egg" cataract is a rare, distinct variety of congenital/infantile cataract that was reported in a large Danish family in 1967. This cataract phenotype is characterized by ant-egg-like bodies embedded in the lens in a laminar configuration and is inherited as an autosomal dominant trait. We retrieved the family and performed linkage analysis to determine the disease locus and identify the mutated gene.
TidsskriftMolecular Vision
Udgave nummer116
Sider (fra-til)1033-1039
Antal sider7
StatusUdgivet - 2006

ID: 1201372