Genetic & Genomic MedicineExperimental Eye ResearchPeer-reviewed
RPE65-related retinal dystrophy: mutational and phenotypic spectrum in 45 affected patients.
Rosario López‐Rodríguez, Esther Lantero, Fiona Blanco‐Kelly…·Carmen Ayuso
The paper analyzes RPE65 variants in 45 patients with retinal dystrophy, finding associations between variant types and age at onset.
33 citations