Article
Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement.
Investigative ophthalmology & visual science - 1 Aug 1998
Rodriguez I R, Mazuruk K, Jaworski C, Iwata F, Moreira E F, Kaiser-Kupfer M I
Abstract excerpt
PURPOSE: To determine whether two families diagnosed with X-linked retinoschisis contained mutations in the XLRS1 gene. METHODS: DNA from the patients was obtained from blood lymphocytes using commercially available kits. Single-strand conformation assay was performed in an electrophoresis apparatus using 10% acrylamide TBE gels at 10 degrees C. The gels were stained with SYB green II and were scanned in a...
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