Article
Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation.
Ophthalmic research - 1 Jan 1998
Yoshii M, Murakami A, Akeo K, Fujiki K, Saga M, Mizukawa A, Itoh J, Okisaka S, Yanashima K, Hotta Y, Kanai A, Oguchi Y
Abstract excerpt
To determine the phenotype of a Japanese family in which retinitis pigmentosa cosegregates with a rhodopsin gene mutation, i.e. an asparagine-to-serine change at codon 15 (Asn-15-Ser), 5 affected and 5 unaffected members of one pedigree underwent several ophthalmic examinations as well as Ganzfel...
Topics
- Adult
- Aged
- Codon
- DNA
- DNA Primers
- Dark Adaptation
- Electrophoresis, Polyacrylamide Gel
- Electroretinography
- Female
- Humans
- Male
- Middle Aged
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Retinitis Pigmentosa
- Rhodopsin