Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.

doi:10.1001/archopht.1992.01080170068026

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Article

Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 May 1992

Fishman G A, Stone E M, Gilbert L D, Sheffield V C

Abstract excerpt

Three members of one family and one person from another family were found to have a guanine-to-adenine transition mutation in the first nucleotide of codon 106 in the rhodopsin gene that results in a glycine-to-arginine change. All affected members presented with a similar phenotype that included...

Topics

Adult
Amino Acid Sequence
Codon
DNA
Fundus Oculi
Genes, Dominant
Humans
Male
Middle Aged
Mutation
Pedigree
Retinitis Pigmentosa
Rhodopsin
Visual Fields

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