Delineating the Clinical Phenotype of Patients With the c.629C>G, p.Pro210Arg Mutation in Peripherin-2

PURPOSE: More than 200 different mutations in peripherin-2 (PRPH2) are associated with multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and cone or macular diseases. Our goal was to understand how the poorly characterized PRPH2 mutation p.Pro210Arg (P210R) affec...

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Detalles Bibliográficos
Autores principales: Conley, Shannon M., McClard, Cynthia K., Mwoyosvi, Maggie L., Alkadhem, Niyaf, Radojevic, Bojana, Klein, Martin, Birch, David, Ellis, Ashley, Icks, Sonny W., Guddanti, Tejesh, Bennett, Lea D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Retina
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315069/
https://www.ncbi.nlm.nih.gov/pubmed/35861669
http://dx.doi.org/10.1167/iovs.63.8.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9315069/
https://www.ncbi.nlm.nih.gov/pubmed/35861669
http://dx.doi.org/10.1167/iovs.63.8.19

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