@article{e2c6ff3070eb11dcbee902004c4f4f50,
title = "The congenital {"}ant-egg{"} cataract phenotype is caused by a missense mutation in connexin46",
abstract = "{"}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.",
keywords = "Amino Acid Sequence, Base Sequence, Cataract, Connexins, Female, Haplotypes, Humans, Leucine, Lod Score, Male, Molecular Sequence Data, Mutation, Missense, Pedigree, Phenotype, Protein Sorting Signals, Protein Structure, Tertiary, Serine",
author = "Lars Hansen and Wenliang Yao and Hans Eiberg and Mikkel Funding and Ruth Riise and Kj{\ae}r, {Klaus Wilbrandt} and Hejtmancik, {James Fielding} and Thomas Rosenberg",
year = "2006",
language = "English",
volume = "12",
pages = "1033--1039",
journal = "Molecular Vision",
issn = "1090-0535",
publisher = "Molecular Vision",
number = "116",
}