Article
A preliminary report on a DNA-based screening method for retinitis pigmentosa. A trial on a west Australian population.
Australian and New Zealand journal of ophthalmology - 1 Nov 1995
Rakoczy P, Di Grandi S, Kelloway L, Chelva E
Abstract excerpt
PURPOSE AND BACKGROUND: Recent reports have linked numerous point mutations in the human genome to retinitis pigmentosa (RP), suggesting that in the near future molecular biology based genetic counselling for patients with RP might become a reality. In this paper we assess the viability of a DNA-based screening method for RP. Specifically, we screened rhodopsin and the beta-subunit of phosphodiesterase (B-PDE)...
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