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Disease Progression in Patients with Autosomal Dominant Retinitis Pigmentosa due to a Mutation in Inosine Monophosphate Dehydrogenase 1 (IMPDH1)

PURPOSE: Mutations in the inosine monophosphate dehydrogenase 1 (IMPDH1) gene are a common cause of inherited retinal degeneration (IRD). Due to species- and tissue-dependent expression of IMPDH1, there are no appropriate models of human IMPDH1 disease. Therefore, a limited understanding remains of...

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Detalles Bibliográficos
Autores principales: Bennett, Lea D., Klein, Martin, John, Finny T., Radojevic, Bojana, Jones, Kaylie, Birch, David G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7401855/
https://www.ncbi.nlm.nih.gov/pubmed/32821486
http://dx.doi.org/10.1167/tvst.9.5.14