Common and rare variants in patients with early onset drusen maculopathy

Early onset drusen maculopathy (EODM) can lead to advanced macular degeneration at a young age, affecting quality of life. However, the genetic causes of EODM are not well studied. We performed whole genome sequencing in 49 EODM patients. Common genetic variants were analysed by calculating genetic...

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Detalles Bibliográficos
Autores principales: de Breuk, Anita, Lechanteur, Yara T. E., Astuti, Galuh, Galbany, Jordi Corominas, Klaver, Caroline C. W., Hoyng, Carel B., den Hollander, Anneke I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825904/
https://www.ncbi.nlm.nih.gov/pubmed/36053979
http://dx.doi.org/10.1111/cge.14212

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9825904/
https://www.ncbi.nlm.nih.gov/pubmed/36053979
http://dx.doi.org/10.1111/cge.14212

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