A novel mutation of the RP1 gene (Lys778ter) associated with autosomal dominant retinitis pigmentosa

Background: 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...

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Detalhes bibliográficos
Main Authors: Dietrich, K, Jacobi, F K, Tippmann, S, Schmid, R, Zrenner, E, Wissinger, B, Apfelstedt-Sylla, E
Formato: Artigo
Idioma:Inglês
Publicado em: Copyright 2002 British Journal of Ophthalmology 2002
Assuntos:
Clinical Science
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1771063/
https://ncbi.nlm.nih.gov/pubmed/11864893
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