Article
Macular appearance by means of OCT and electrophysiology in members of two families with different mutations in RDS (the peripherin/RDS gene).
Acta ophthalmologica Scandinavica - 1 Oct 2003
Schatz Patrik, Abrahamson Magnus, Eksandh Louise, Ponjavic Vesna, Andréasson Sten
Abstract excerpt
PURPOSE: To describe the phenotype using electroretinography and optical coherence tomography (OCT) in members of two families with different mutations in RDS. METHODS: DNA was extracted from blood samples and used for mutation screening by denaturing gradient gel electrophoresis (DGGE) and nucle...
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