Article
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1993
Sullivan L J, Makris G S, Dickinson P, Mulhall L E, Forrest S, Cotton R G, Loughnan M S
Abstract excerpt
OBJECTIVE: To ascertain and characterize rhodopsin gene mutations in autosomal dominant retinitis pigmentosa and to correlate these mutations with the clinical phenotypes. METHODS: DNA was extracted from leukocytes, and the rhodopsin gene was amplified and analyzed using molecular-biological methods. Clinical and electrophysiological data were collected from patient charts. RESULTS: We found a disease-causing...
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