We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa.
- Authors
Dietrich, K; Jacobi, F K; Tippmann, S; Schmid, R; Zrenner, E; Wissinger, B; Apfelstedt-Sylla, E
- Abstract
Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified. Initial reports suggest that mutations in the RP1 gene are the second most frequent cause of adRP. The clinical findings were described in a family with adRP and a novel mutation in the RP1 gene.
- Publication
The British journal of ophthalmology, 2002, Vol 86, Issue 3, p328
- ISSN
0007-1161
- Publication type
Journal Article
- DOI
10.1136/bjo.86.3.328