An Overview of the Genetics of ABCA4 Retinopathies, an Evolving Story

Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin A derivatives that are toxic to the RPE. Diagnosing ABCA4R is...

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Detalles Bibliográficos
Autores principales: Al-Khuzaei, Saoud, Broadgate, Suzanne, Foster, Charlotte R., Shah, Mital, Yu, Jing, Downes, Susan M., Halford, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392661/
https://www.ncbi.nlm.nih.gov/pubmed/34440414
http://dx.doi.org/10.3390/genes12081241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392661/
https://www.ncbi.nlm.nih.gov/pubmed/34440414
http://dx.doi.org/10.3390/genes12081241

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