Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8791245 | Archivos de la Sociedad Española de Oftalmología | 2018 | 7 Pages |
Abstract
NGS is particularly useful in the diagnosis of Stargardt's disease as ABCA4 is a large gene with a high allelic heterogeneity that causes a wide range of clinical manifestations.
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Authors
B. Jimenez-Rolando, S. Noval, I. Rosa-Perez, E. Mata Diaz, A. del Pozo, C. Ibañez, J.C. Silla, V.E.F. Montaño, R. Martin-Arenas, E. Vallespin,