ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease

Introduction: Inherited retinal dystrophies (IRDs) can be caused by variants in more than 280 genes. The ATP-binding cassette transporter type A4 (ABCA4) gene is one of these genes and has been linked to Stargardt disease type 1 (STGD1), fundus flavimaculatus, cone–rod dystrophy (CRD), and pan-retin...

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Detalles Bibliográficos
Autores principales: Rodríguez-Hidalgo, María, de Bruijn, Suzanne E., Corradi, Zelia, Rodenburg, Kim, Lara-López, Araceli, Valverde-Megías, Alicia, Ávila-Fernández, Almudena, Fernandez-Caballero, Lidia, Del Pozo-Valero, Marta, Corominas, Jordi, Gilissen, Christian, Irigoyen, Cristina, Cremers, Frans P. M., Ayuso, Carmen, Ruiz-Ederra, Javier, Roosing, Susanne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10539688/
https://www.ncbi.nlm.nih.gov/pubmed/37779911
http://dx.doi.org/10.3389/fgene.2023.1234032

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10539688/
https://www.ncbi.nlm.nih.gov/pubmed/37779911
http://dx.doi.org/10.3389/fgene.2023.1234032

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