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Abstract

Malatia Leventinese: a propósito de un caso

Malattia leventinese, es una distrofia retiniana, autosómica dominante, y se ha ligado a mutaciones en el gen EFEMP1. Está causada por un defecto metabólico en el epitelio pigmentario de la retina (EPR).


Author(s): Cristina Isabel Blanco Marchite, Mercedes López Molina, Isabel Pérez González

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