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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...

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Detalhes bibliográficos
Main Authors: Shu, Xinhua, Luhmann, Ulrich F. O., Aleman, Tomas S., Barker, Susan E., Lennon, Alan, Tulloch, Brian, Chen, Mei, Xu, Heping, Jacobson, Samuel G., Ali, Robin, Wright, Alan F.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3217991/
https://ncbi.nlm.nih.gov/pubmed/22110650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0027433
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