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Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients

PURPOSE: To describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients. METHODS: This retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of them. Targeted next-generation sequencing o...

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Detalles Bibliográficos
Autores principales: Mena, Marcela D., Moresco, Angélica A., Vidal, Sofía H., Aguilar-Cortes, Diana, Obregon, María G., Fandiño, Adriana C., Sendoya, Juan M., Llera, Andrea S., Podhajcer, Osvaldo L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8033171/
https://www.ncbi.nlm.nih.gov/pubmed/33841504
http://dx.doi.org/10.3389/fgene.2021.646058