Thr4Lys rhodopsin mutation is associated with autosomal dominant retinitis pigmentosa of the cone-rod type in a small Dutch family.

van den Born, L I; van Schooneveld, M J; de Jong, L A; Riemslag, F C; de Jong, P T; Gal, A; Bleeker-Wagemakers, E M

van den Born, L I; van Schooneveld, M J; de Jong, L A; Riemslag, F C; de Jong, P T; Gal, A; Bleeker-Wagemakers, E M.

Affiliation

van den Born LI; Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam.

Ophthalmic Genet ; 15(2): 51-60, 1994 Jun.

Article in En | MEDLINE | ID: mdl-7850269

Subject(s)

Codon/genetics; Photoreceptor Cells/pathology; Point Mutation; Retinitis Pigmentosa/genetics; Rhodopsin/genetics; Adult; Electroretinography; Female; Fundus Oculi; Humans; Lysine; Middle Aged; Netherlands; Pedigree; Retinitis Pigmentosa/pathology; Threonine; Vision Tests; Visual Fields

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Database: MEDLINE Main subject: Photoreceptor Cells / Rhodopsin / Codon / Retinitis Pigmentosa / Point Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adult / Female / Humans / Middle aged Country/Region as subject: Europa Language: En Year: 1994 Type: Article

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