ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

PURPOSE: The effect of noncoding variants is often unknown in the absence of functional assays. Here, we characterized an ABCA4 intron 7 variant, c.859-25A>G, identified in Palestinian probands with Stargardt disease (STGD) or cone-rod dystrophy (CRD). We investigated the effect of this variant o...

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Detalles Bibliográficos
Autores principales: Corradi, Zelia, Salameh, Manar, Khan, Mubeen, Héon, Elise, Mishra, Ketan, Hitti-Malin, Rebekkah J., AlSwaiti, Yahya, Aslanian, Alice, Banin, Eyal, Brooks, Brian P., Zein, Wadih M., Hufnagel, Robert B., Roosing, Susanne, Dhaenens, Claire‐Marie, Sharon, Dror, Cremers, Frans P. M., AlTalbishi, Alaa
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/PMC9055564/
https://www.ncbi.nlm.nih.gov/pubmed/35475888
http://dx.doi.org/10.1167/iovs.63.4.20

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