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160Thr mutation in the rhodopsin gene associated with retinitis pigmentosa
C Capeans1, M J Blanco, M V Lareu
1Department of Ophthalmology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.
Human Heredity
|September 28, 1998
Abstract:
Mutations in the rhodopsin gene were studied in 23 unrelated Spanish patients with sporadic retinitis pigmentosa (RP). A codon 160 Thr C-->A transition was found in 4 of the 23 patients vs. none of the 159 controls (p < 0.001) suggesting that this mutation may be an informative marker in RP.