DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration

PURPOSE: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). METHODS: Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed to validate the variants identified (fibroblast assay, ind...

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Detalles Bibliográficos
Autores principales: Vig, Anjali, Poulter, James A., Ottaviani, Daniele, Tavares, Erika, Toropova, Katerina, Tracewska, Anna Maria, Mollica, Antonio, Kang, Jasmine, Kehelwathugoda, Oshini, Paton, Tara, Maynes, Jason T., Wheway, Gabrielle, Arno, Gavin, Khan, Kamron N., McKibbin, Martin, Toomes, Carmel, Ali, Manir, Di Scipio, Matteo, Li, Shuning, Ellingford, Jamie, Black, Graeme, Webster, Andrew, Rydzanicz, Małgorzata, Stawiński, Piotr, Płoski, Rafał, Vincent, Ajoy, Cheetham, Michael E., Inglehearn, Chris F., Roberts, Anthony, Heon, Elise
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group US 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708302/
https://www.ncbi.nlm.nih.gov/pubmed/32753734
http://dx.doi.org/10.1038/s41436-020-0915-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708302/
https://www.ncbi.nlm.nih.gov/pubmed/32753734
http://dx.doi.org/10.1038/s41436-020-0915-1

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