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Deletions in exon 5 of the human rhodopsin gene causing a shift in the reading frame and autosomal dominant retinitis pigmentosa

✍ Scribed by Monika Horn; Peter Humphries; Markus Kunisch; Christiana Marchese; Eckart Apfelstedt-Sylla; Luigi Fugi; Eberhart Zrenner; Paul Kenna; Andreas Gal; Jane Farrar

Publisher: Springer
Year: 1992
Tongue: English
Weight: 417 KB
Volume: 90
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00220073

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✦ Synopsis

By screening patients with autosomal dominant retinitis pigmentosa for mutations in the rhodopsin gene, two deletions (8 bp and 1 bp) have been identified in exon 5; these deletions cause a shift in the reading frame. The predicted proteins should be radically altered with translation continuing past the normal stop signal and resulting in a rhodopsin molecule that is, respectively, 1 and 10 amino acids longer. The clinical phenotype of the patients is described and is compared with that associated with other mutations in the same region of the gene.

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