Article
Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Nov 1992
Fishman G A, Vandenburgh K, Stone E M, Gilbert L D, Alexander K R, Sheffield V C
Abstract excerpt
Two members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine mutation in the second nucleotide of codon 267 in the rhodopsin gene that resulted in a proline-to-leucine change. Two members of another family with autosomal dominant retinitis pigmentosa showed a guanine-to-thymine mutation in the first nucleotide of codon 190 in the rhodopsin gene that resulted in an...
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