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Peripherin/RDS Gene Mutation (Pro210Leu) and Polymorphisms in Japanese Patients with Retinal Dystrophies

✍ Scribed by Budu; Seiji Hayasaka; Masayuki Matsumoto; Tetsuya Yamada; Xue-Yun Zhang; Yoriko Hayasaka


Book ID
114044215
Publisher
Springer
Year
2001
Tongue
English
Weight
246 KB
Volume
45
Category
Article
ISSN
0021-5155

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Mutations and polymorphisms in the human
✍ T. Jeffrey Keen; Chris F. Inglehearn πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 634 KB

The RDS gene codes for the protein peripherin-RDS, which is an integral membrane glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It is thought to function as a structural protein involved in the maintenance of the flattened form of the disc lamellae. The RDS gene ha