Article
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
Investigative ophthalmology & visual science - 1 Aug 2000
Sharon D, Bruns G A, McGee T L, Sandberg M A, Berson E L, Dryja T P
Abstract excerpt
PURPOSE: To assess the frequency of RPGR and RP2 mutations in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and to compare the visual function of patients with mutations in RPGR versus RP2. METHODS: Eighty-five unrelated patients with XLRP were ascertained, mainly from North America. The single-strand conformation polymorphism (SSCP) and a direct sequencing technique were used to screen their DNA...
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