Article
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.
Investigative ophthalmology & visual science - 1 Oct 2000
Kobayashi A, Higashide T, Hamasaki D, Kubota S, Sakuma H, An W, Fujimaki T, McLaren M J, Weleber R G, Inana G
Abstract excerpt
PURPOSE: To investigate the function and pathogenicity of HRG4, a photoreceptor synaptic protein homologous to the Caenorhabditis elegans neuroprotein UNC119. METHODS: HRG4 was screened for mutations in patients with various retinopathies, and a transgenic mouse model was constructed and analyzed based on a mutation found. RESULTS: A heterozygous premature termination codon mutation was found in a 57-year-old...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.