Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene. Participants were clinically examined and underwent e...

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Detalles Bibliográficos
Autores principales: Whelan, Laura, Dockery, Adrian, Stephenson, Kirk A. J., Zhu, Julia, Kopčić, Ella, Post, Iris J. M., Khan, Mubeen, Corradi, Zelia, Wynne, Niamh, O’ Byrne, James J., Duignan, Emma, Silvestri, Giuliana, Roosing, Susanne, Cremers, Frans P. M., Keegan, David J., Kenna, Paul F., Farrar, G. Jane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256698/
https://www.ncbi.nlm.nih.gov/pubmed/37296172
http://dx.doi.org/10.1038/s41598-023-35889-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10256698/
https://www.ncbi.nlm.nih.gov/pubmed/37296172
http://dx.doi.org/10.1038/s41598-023-35889-9

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