A Peripherin/Retinal Degeneration Slow Mutation (Pro-210-Arg) Associated with Macular and Peripheral Retinal Degeneration

Ophthalmology

Volumn 102, Issue 2, 1995, Pages 246-255

  Gorin, Michael B ^a,b   Jackson, Kelly E ^b   Ferrell, Robert E ^b   Sheffield, Val C ^c   Jacobson, Samuel G ^d   Gass, J Donald M ^d   Mitchell, Elysey ^b   Stone, Edwin M ^c  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^c UNIVERSITY OF IOWA   (United States)

^d UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PERIPHERIN;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; CODON; DENATURING GRADIENT GEL ELECTROPHORESIS; DNA SEQUENCE; DRUSEN; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PHOTORECEPTOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MACULA DEGENERATION;

EID: 0028804575     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0161-6420(95)31029-9     Document Type: Article

References (23)

1. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse
2. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
3. Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His)
4. A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa
5. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
6. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
7. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
8. Butterflyshaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
9. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
10. Peripherin. A rim-specific membrane protein of rod outer segment discs
11. The retinal degeneration slow (rds) gene product is a photoreceptor disc membraneassociated glycoprotein
12. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
13. A clinicopathologic study of a peculiar foveomacular dystrophy
14. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis
15. Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis
16. Protocols for an improved detection of point mutations by SSCP
17. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD 1)
18. An electroretinographic and molecular genetic study of Xlinked cone degeneration
19. A dominant Stargardts macular dystrophy locus maps to chromosome 13g34
20. Clinical features of a Stargardt-like dominant progressive macular genetic dystrophy with genetic linkage to chromosome 6q
21. The genetics of agerelated maculopathy
22. Pathophysiology of age-related macular degeneration
23. Age-related macular degeneration