Paula Jorge

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe (2002)

Maugeri, Alessandra, Flothmann, Kris, Hemmrich, Nadine, Ingvast, Sofie, Jorge, Paula, Paloma, Eva, ...

Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene...