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Splice site mutation in the peripherin/RDS gene associated with pattern dystrophy of the retina

✍ Scribed by Jonathan E Sears; Thomas A Aaberg Sr; Stephen P Daiger; Darius M Moshfeghi


Book ID
117017974
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
305 KB
Volume
132
Category
Article
ISSN
0002-9394

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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