Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4

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...

Descripción completa

Detalles Bibliográficos
Autores principales: McMahon, Anne, Butovich, Igor A., Mata, Nathan L., Klein, Martin, Ritter, Robert, Richardson, James, Birch, David G., Edwards, Albert O., Kedzierski, Wojciech
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2007
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633486/
https://www.ncbi.nlm.nih.gov/pubmed/17356513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2633486/
https://www.ncbi.nlm.nih.gov/pubmed/17356513

Ejemplares similares