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