A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.

Subjects

Subjects :

Amino Acid Sequence
Base Sequence
DNA genetics
Genes, Dominant
Humans
Middle Aged
Molecular Sequence Data
Peripherins
Polymorphism, Genetic
Retinal Diseases complications
Retinitis Pigmentosa complications
Intermediate Filament Proteins genetics
Macula Lutea
Membrane Glycoproteins
Nerve Tissue Proteins
Point Mutation
Retinal Diseases genetics
Retinitis Pigmentosa genetics

Details

Language :

English

ISSN :

0888-7543

Volume :

20

Issue :

1

Database :

MEDLINE

Journal :

Genomics

Publication Type :

Academic Journal

Accession number :

8020945

Full Text :

https://doi.org/10.1006/geno.1994.1142