Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Fishman, Gerald A GA; Zernant, Jana J; Schubert, Carl C; Tsang, Stephen H SH; Smith, R Theodore RT; Ayyagari, Radha R; Koenekoop, Robert K RK; Umfress, Allison A; Ciccarelli, Maria Laura ML; Baldi, Alfonso A; Iannaccone, Alessandro A; Cremers, Frans P M FP; Klaver, Caroline C W CC; Allikmets, Rando R