A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

William J. Waldocka Imperial Healthcare NHS Trust, London, UKView further author information

Laura J. Taylorb Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK;c Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UKView further author information

Sian Sperringb Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UKView further author information

Federica Staurenghic Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UKView further author information

Cristina Martinez-Fernandez de la Camarab Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK;c Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UKView further author information

Jennifer Whitfieldd Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information

Penny Cloustond Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford, UKView further author information

Imran H. Yusufb Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK;c Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UKView further author information

Robert E. MacLarenb Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, UK;c Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UKCorrespondence[email protected]
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A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

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A hypomorphic variant of choroideremia is associated with a novel intronic mutation that leads to exon skipping

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