Article
Mutations in the USH1C gene associated with sector retinitis pigmentosa and hearing loss.
Retina (Philadelphia, Pa.) - 1 Sept 2011
Saihan Zubin, Stabej Polona Le Quesne, Robson Anthony G, Rangesh Nell, Holder Graham E, Moore Anthony T, Steel Karen P, Luxon Linda M, Bitner-Glindzicz Maria, Webster Andrew R
Abstract excerpt
PURPOSE: To determine the molecular cause of sector retinitis pigmentosa and hearing loss in two affected siblings. METHODS: Direct DNA sequencing of the USH1C gene was performed in two affected siblings. Putative pathogenic sequence changes were assayed in their parent's chromosomes and in control chromosomes. Clinical examination included visual acuity measurement, visual field measurement, electrophysiologic...
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