Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

PURPOSE: Autosomal dominant cone rod dystrophy 7 (CORD7) was initially linked to the gene RIMS1 and reported in a 4-generation British family in 1998. The purpose of this study was to investigate the legitimacy of this association, and to correctly characterize the genetic cause of this condition. M...

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Detalles Bibliográficos
Autores principales: Martin-Gutierrez, Maria Pilar, Schiff, Elena R., Wright, Genevieve, Waseem, Naushin, Mahroo, Omar A., Michaelides, Michel, Moore, Anthony T., Webster, Andrew R., Arno, Gavin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381847/
https://www.ncbi.nlm.nih.gov/pubmed/35947379
http://dx.doi.org/10.1167/iovs.63.9.14

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9381847/
https://www.ncbi.nlm.nih.gov/pubmed/35947379
http://dx.doi.org/10.1167/iovs.63.9.14

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