Phenotypes of stop codon and splice site rhodopsin mutations causing retinitis pigmentosa.

Jacobson, S G; Kemp, C M; Cideciyan, A V; Macke, J P; Sung, C H; Nathans, J

Jacobson, S G; Kemp, C M; Cideciyan, A V; Macke, J P; Sung, C H; Nathans, J.

Affiliation

Jacobson SG; Department of Ophthalmology, University of Miami School of Medicine, Florida.

Invest Ophthalmol Vis Sci ; 35(5): 2521-34, 1994 Apr.

Article in En | MEDLINE | ID: mdl-8163341

Subject(s)

Codon/genetics; Mutation; RNA Splicing; Retinitis Pigmentosa/genetics; Rhodopsin/genetics; Adolescent; Adult; Aged; Child; Dark Adaptation; Electroretinography; Female; Humans; Male; Middle Aged; Phenotype; Retinal Degeneration/genetics; Retinal Degeneration/physiopathology; Retinal Rod Photoreceptor Cells/physiopathology; Retinitis Pigmentosa/physiopathology; Rhodopsin/metabolism; Sensory Thresholds/physiology; Visual Field Tests; Visual Fields

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Collection: 01-internacional Database: MEDLINE Main subject: Rhodopsin / Codon / Retinitis Pigmentosa / RNA Splicing / Mutation Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Invest Ophthalmol Vis Sci Year: 1994 Document type: Article

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