[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].

Article

[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa].

Journal francais d'ophtalmologie - 1 Jan 1996

Souied E, Rozet J M, Gerber S, Munnich A, Kaplan J

Abstract excerpt

PURPOSE: We have previously identified rhodopsin gene mutations in France in autosomal dominant (ADRP) retinitis pigmentosa in France, using a combination of SSCP (single-strand conformation polymorphism) and direct sequence analysis. The aim of this study was to perform a more rapid tool to iden...

Topics

DNA Restriction Enzymes
Electrophoresis, Agar Gel
Genes, Dominant
Humans
Mutation
Polymerase Chain Reaction
Retinitis Pigmentosa
Rhodopsin
Risk

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