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Open Access
Peer-reviewed
Research Article
Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
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Mei Hong Tan ,
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 ,
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 ,
* E-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
* E-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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Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy
- Mei Hong Tan,
- Donna S. Mackay,
- Jill Cowing,
- Hoai Viet Tran,
- Alexander J. Smith,
- Genevieve A. Wright,
- Arundhati Dev-Borman,
- Robert H. Henderson,
- Phillip Moradi,
- Isabelle Russell-Eggitt
- Published: March 6, 2012
- https://doi.org/10.1371/journal.pone.0032330