RDH12 retinopathy: novel mutations and phenotypic description

PURPOSE: To identify patients with autosomal recessive retinal dystrophy caused by mutations in the gene, retinal dehydrogenase 12 (RDH12), and to report the associated phenotype. METHODS: After giving informed consent, all patients underwent full clinical evaluation. Patients were selected for muta...

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Detalles Bibliográficos
Autores principales: Mackay, Donna S., Dev Borman, Arundhati, Moradi, Phillip, Henderson, Robert H., Li, Zheng, Wright, Genevieve A., Waseem, Naushin, Gandra, Mamatha, Thompson, Dorothy A., Bhattacharya, Shomi S., Holder, Graham E., Webster, Andrew R., Moore, Anthony T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209419/
https://www.ncbi.nlm.nih.gov/pubmed/22065924

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209419/
https://www.ncbi.nlm.nih.gov/pubmed/22065924

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