The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
"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.
Originalsprog | Engelsk |
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Tidsskrift | Molecular Vision |
Vol/bind | 12 |
Udgave nummer | 116 |
Sider (fra-til) | 1033-1039 |
Antal sider | 7 |
ISSN | 1090-0535 |
Status | Udgivet - 2006 |
ID: 1201372