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Research Article

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

  • Mei Hong Tan equal contributor,

    equal contributor Contributed equally to this work with: Mei Hong Tan, Donna S. Mackay

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Donna S. Mackay equal contributor,

    equal contributor Contributed equally to this work with: Mei Hong Tan, Donna S. Mackay

    Affiliation: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom

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  • Jill Cowing,

    Affiliation: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom

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  • Hoai Viet Tran,

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Alexander J. Smith,

    Affiliation: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom

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  • Genevieve A. Wright,

    Affiliation: Moorfields Eye Hospital, London, United Kingdom

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  • Arundhati Dev-Borman,

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Robert H. Henderson,

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Phillip Moradi,

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Isabelle Russell-Eggitt,

    Affiliation: Great Ormond Street Hospital for Children, London, United Kingdom

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  • Robert E. MacLaren,

    Affiliations: Moorfields Eye Hospital, London, United Kingdom, Oxford University Hospitals NHS Trust, London, United Kingdom

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  • Anthony G. Robson,

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Michael E. Cheetham,

    Affiliation: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom

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  • Dorothy A. Thompson,

    Affiliation: Great Ormond Street Hospital for Children, London, United Kingdom

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  • Andrew R. Webster,

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Michel Michaelides mail,

    tony.moore@ucl.ac.uk (AM); michel.michaelides@ucl.ac.uk (MM)

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Robin R. Ali,

    Affiliation: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom

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  • Anthony T. Moore mail

    tony.moore@ucl.ac.uk (AM); michel.michaelides@ucl.ac.uk (MM)

    Affiliations: Department of Genetics, Institute of Ophthalmology, University College London, London, United Kingdom, Moorfields Eye Hospital, London, United Kingdom

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  • Published: March 06, 2012
  • DOI: 10.1371/journal.pone.0032330

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