Two autosomal dominant retinitis pigmentosa families of different origin were screened for rhodopsin mutations using the method of single strand conformation polymorphism and direct sequencing. We found a CGG-CAG substitution in codon 114 of rhodopsin in both families. This change predicted the replacement of a glycine by an aspartic acid and suggested that this change is the cause of the disease in these families.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0890-8508(95)91052-2 | DOI Listing |
Publication Analysis
Top Keywords
autosomal dominant
8
dominant retinitis
8
retinitis pigmentosa
8
gly114asp mutation
4
mutation rhodopsin
4
rhodopsin autosomal
4
pigmentosa autosomal
4
pigmentosa families
4
families origin
4
origin screened
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!