A Novel ARL3 Gene Mutation Associated With Autosomal Dominant Retinal Degeneration

Despite major progress in the discovery of causative genes, many individuals and families with inherited retinal degenerations (IRDs) remain without a molecular diagnosis. We applied whole exome sequencing to identify the genetic cause in a family with an autosomal dominant IRD. Eye examinations wer...

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Detalles Bibliográficos
Autores principales: Ratnapriya, Rinki, Jacobson, Samuel G., Cideciyan, Artur V., English, Milton A., Roman, Alejandro J., Sumaroka, Alexander, Sheplock, Rebecca, Swaroop, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416110/
https://www.ncbi.nlm.nih.gov/pubmed/34485303
http://dx.doi.org/10.3389/fcell.2021.720782

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8416110/
https://www.ncbi.nlm.nih.gov/pubmed/34485303
http://dx.doi.org/10.3389/fcell.2021.720782

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