Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing

Missense variants in ABCA4 constitute ~50% of causal variants in Stargardt disease (STGD1). Their pathogenicity is attributed to their direct effect on protein function, whilst their potential impact on pre-mRNA splicing disruption remains poorly understood. Interestingly, synonymous ABCA4 variants...

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Detalles Bibliográficos
Autores principales: Kaltak, Melita, Corradi, Zelia, Collin, Rob W J, Swildens, Jim, Cremers, Frans P M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586196/
https://www.ncbi.nlm.nih.gov/pubmed/37555651
http://dx.doi.org/10.1093/hmg/ddad129

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10586196/
https://www.ncbi.nlm.nih.gov/pubmed/37555651
http://dx.doi.org/10.1093/hmg/ddad129

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