Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa
✍ Scribed by Gunnar Grüning; José M. Millan; Moritz Meins; Magdalena Beneyto; Manuel Caballero; Eckart Apfelstedt-Sylla; Rosabel Bosch; Eberhart Zrenner; Felix Prieto; Andreas Gal
- Publisher
- John Wiley and Sons
- Year
- 1994
- Tongue
- English
- Weight
- 335 KB
- Volume
- 3
- Category
- Article
- ISSN
- 1059-7794
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Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as re
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