Identification of a novel polymorphism (IVS6-33C->G) and two novel rare variants (IVS6-42delT and IVS6-43delA) in RPE65 gene


  • Communicated by Mark H. Paalman

  • Online Citation: Human Mutation, Mutation and Polymorphism Report #223 (2001) Online

  • Acknowledgments: We would like to express our gratitude to all those affected by RP for their cooperation, essential for the achievement of this study. This study was supported by Fondo de Investigaciones Sanitarias (FIS 99/0010-02), the Fundación ONCE, Consejería de Salud/ Comunidad Autónoma de Andalucía (98/144) and the Asociación Andaluza de Retinosis Pigmentaria, Spain. I.M. is the recipient of a fellowship from the Instituto de Salud Carlos III (99/4250), Ministerio de Sanidad y Consumo, Spain.

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