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A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa

✍ Scribed by Masamichi Saga; Yukihiko Mashima; Kiyoshi Akeo; Yoshihisa Oguchi; Jun Kudoh; Nobuyoshi Shimizu


Publisher
Springer
Year
1993
Tongue
English
Weight
452 KB
Volume
92
Category
Article
ISSN
0340-6717

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Retinitis pigmentosa (RP) is the most common inherited retinal degeneration. A subset of patients with autosomal dominant (ad) RP carry a mutation in the rhodopsin gene. We have identified a new missense rhodopsin mutation. namely A346P, which cosegregates with the disease phenotype in one Spanish f