Article
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
Molecular vision - 26 Feb 2007
McMahon Anne, Butovich Igor A, Mata Nathan L, Klein Martin, Ritter Robert, Richardson James, Birch David G, Edwards Albert O, Kedzierski Wojciech
Abstract excerpt
PURPOSE: Autosomal dominant Stargardt disease-3 (STGD3) is caused by mutations in elongase of very long chain fatty acids-4 (ELOVL4). The goal of this study was to generate and characterize heterozygous and homozygous knockin-mice that carry a human STGD3 pathogenic mutation in the mouse Elovl4 gene. METHODS: Recombinant Stgd3-knockin mice were generated using a DNA construct which introduced a pathogenic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.