Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene

Hum Mol Genet. 1994 Feb;3(2):367-8. doi: 10.1093/hmg/3.2.367.

Authors

T J Keen¹, C F Inglehearn, R Kim, A C Bird, S Bhattacharya

Affiliation

¹ Department of Molecular Genetics, Institute of Ophthalmology, London, UK.

PMID: 8004111
DOI: 10.1093/hmg/3.2.367

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
Codon
Genes*
Humans
Intermediate Filament Proteins / genetics*
Membrane Glycoproteins*
Molecular Sequence Data
Mutagenesis, Insertional*
Nerve Tissue Proteins*
Peripherins
Phenotype
Retinal Degeneration / genetics*

Substances

Codon
Intermediate Filament Proteins
Membrane Glycoproteins
Nerve Tissue Proteins
PRPH protein, human
PRPH2 protein, human
Peripherins