Peripherin/RDS gene mutation (Pro210Leu) and polymorphisms in Japanese patients with retinal dystrophies

Japanese Journal of Ophthalmology

Volumn 45, Issue 4, 2001, Pages 355-358

  Budu, ^a   Hayasaka, Seiji ^a   Matsumoto, Masayuki ^b   Yamada, Tetsuya ^a   Zhang, Xue Yun ^a   Hayasaka, Yoriko ^a  

^a TOYAMA MEDICAL AND PHARMACEUTICAL UNIVERSITY   (Japan)

^b UNIVERSITY OF TOYAMA   (Japan)

Author keywords

Codon 210; Japanese; Mutation; Peripherin RDS gene; Retinitis pigmentosa

Indexed keywords

PERIPHERIN; RETINAL;

ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; JAPAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA;

DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; JAPAN; LEUCINE; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROLINE; RETINAL DEGENERATION;

EID: 0034919138     PISSN: 00215155     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0021-5155(01)00334-3     Document Type: Article

References (15)

1. Polymorphic variation within 'conserved' sequences at the 3′ end of the human RDS gene which results in amino acid substitutions
2. Autosomal dominant retinitis pigmentosa; a novel mutation at the peripheri/RDS locus in the original 6p-linked pedigree
3. The identification of an exon-2 peripherin mutation in a family with heterogeneous manifestations of a butterfly pattern macular dystrophy
4. Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro210Arg)
5. RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function
6. Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration
7. A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with Bull's-eye maculopathy detected by nonradioisotopic SSCP
8. A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration
9. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration
10. Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene
11. RDS/peripherin gene mutations are frequent causes of central retinal dystrophies
12. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa
13. Analysis of peripherin/RDS gene for Japanese retinal dystrophies
14. The role of the peripherin/RDS gene in retinal dystrophies
15. The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein