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Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family

PURPOSE: Progressive rod-cone degeneration (PRCD) is a canine form of autosomal recessive photoreceptor degeneration and serves as an animal model for human retinitis pigmentosa (RP). To date, only two RP-causing mutations of the PRCD gene have been reported in humans. We found a novel mutation in P...

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Detalles Bibliográficos
Autores principales: Pach, Johanna, Kohl, Susanne, Gekeler, Florian, Zobor, Ditta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3692407/
https://www.ncbi.nlm.nih.gov/pubmed/23805042