Characterisation of a C1qtnf5 Ser163Arg Knock-In Mouse Model of Late-Onset Retinal Macular Degeneration
A single founder mutation resulting in a Ser163Arg substitution in the C1QTNF5 gene product causes autosomal dominant late-onset retinal macular degeneration (L-ORMD) in humans, which has clinical and pathological features resembling age-related macular degeneration. We generated and characterised a...
Main Authors: | , , , , , , , , , , |
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Format: | Online |
Language: | English |
Published: |
Public Library of Science
2011
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Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217991/ |