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Investigative Ophthalmology & Visual Science (2)

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Genetics (2)

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Genetics (2)
Eye Anatomy and Disorders (1)
Retina (1)
Vitreous Disorders (1)

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genes (2)
mutation (2)
cohort studies (1)
familial exudative vitreoretinopathies (1)
family (1)
genetic linkage analysis (1)
genome (1)
hexokinase (1)
massively-parallel genome sequencing (1)
missense mutation (1)

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Genetics March 2015

Next-Generation Sequencing and Novel Variant Determination in a Cohort of 92 Familial Exudative Vitreoretinopathy Patients

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Jason Salvo; Vera Lyubasyuk; Mingchu Xu; Hui Wang; Feng Wang; Duy Nguyen; Keqing Wang; Hongrong Luo; Cindy Wen; Catherine Shi; Danni Lin; Kang Zhang; Rui Chen
TAGS: cohort studies, familial exudative vitreoretinopathies, massively-parallel genome sequencing, mutation, genes
Invest. Ophthalmol. Vis. Sci.. 2015; 56(3):1937-1946. https://doi.org/10.1167/iovs.14-16065

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Genetics November 2014

A Missense Mutation in HK1 Leads to Autosomal Dominant Retinitis Pigmentosa

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Feng Wang; Yandong Wang; Bin Zhang; Li Zhao; Vera Lyubasyuk; Keqing Wang; Mingchu Xu; Yumei Li; Frances Wu; Cindy Wen; Paul S. Bernstein; Danni Lin; Susanna Zhu; Hui Wang; Kang Zhang; Rui Chen
TAGS: genetic linkage analysis, missense mutation, mutation, retinitis pigmentosa, whole exome sequencing, proteins, genes, family, hexokinase, retinal diseases
Invest. Ophthalmol. Vis. Sci.. 2014; 55(11):7159-7164. https://doi.org/10.1167/iovs.14-15520

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2025 Association for Research in Vision and Ophthalmology.

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